NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND not specified

Germline classification:: Conflicting interpretations of pathogenicity (9 submissions)
Last evaluated:: Aug 15, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000120296.37

Allele description [Variation Report for NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)]

NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)

Other names:

p.E1250K:GAG>AAG; 3867G>A; NP_009225.1:p.Glu1250Lys

HGVS:

NC_000017.11:g.43091783C>T
NG_005905.2:g.126201G>A
NG_087068.1:g.765C>T
NM_001407571.1:c.3535G>A
NM_001407581.1:c.3748G>A
NM_001407582.1:c.3748G>A
NM_001407583.1:c.3748G>A
NM_001407585.1:c.3748G>A
NM_001407587.1:c.3745G>A
NM_001407590.1:c.3745G>A
NM_001407591.1:c.3745G>A
NM_001407593.1:c.3748G>A
NM_001407594.1:c.3748G>A
NM_001407596.1:c.3748G>A
NM_001407597.1:c.3748G>A
NM_001407598.1:c.3748G>A
NM_001407602.1:c.3748G>A
NM_001407603.1:c.3748G>A
NM_001407605.1:c.3748G>A
NM_001407610.1:c.3745G>A
NM_001407611.1:c.3745G>A
NM_001407612.1:c.3745G>A
NM_001407613.1:c.3745G>A
NM_001407614.1:c.3745G>A
NM_001407615.1:c.3745G>A
NM_001407616.1:c.3748G>A
NM_001407617.1:c.3748G>A
NM_001407618.1:c.3748G>A
NM_001407619.1:c.3748G>A
NM_001407620.1:c.3748G>A
NM_001407621.1:c.3748G>A
NM_001407622.1:c.3748G>A
NM_001407623.1:c.3748G>A
NM_001407624.1:c.3748G>A
NM_001407625.1:c.3748G>A
NM_001407626.1:c.3748G>A
NM_001407627.1:c.3745G>A
NM_001407628.1:c.3745G>A
NM_001407629.1:c.3745G>A
NM_001407630.1:c.3745G>A
NM_001407631.1:c.3745G>A
NM_001407632.1:c.3745G>A
NM_001407633.1:c.3745G>A
NM_001407634.1:c.3745G>A
NM_001407635.1:c.3745G>A
NM_001407636.1:c.3745G>A
NM_001407637.1:c.3745G>A
NM_001407638.1:c.3745G>A
NM_001407639.1:c.3748G>A
NM_001407640.1:c.3748G>A
NM_001407641.1:c.3748G>A
NM_001407642.1:c.3748G>A
NM_001407644.1:c.3745G>A
NM_001407645.1:c.3745G>A
NM_001407646.1:c.3739G>A
NM_001407647.1:c.3739G>A
NM_001407648.1:c.3625G>A
NM_001407649.1:c.3622G>A
NM_001407652.1:c.3748G>A
NM_001407653.1:c.3670G>A
NM_001407654.1:c.3670G>A
NM_001407655.1:c.3670G>A
NM_001407656.1:c.3670G>A
NM_001407657.1:c.3670G>A
NM_001407658.1:c.3670G>A
NM_001407659.1:c.3667G>A
NM_001407660.1:c.3667G>A
NM_001407661.1:c.3667G>A
NM_001407662.1:c.3667G>A
NM_001407663.1:c.3670G>A
NM_001407664.1:c.3625G>A
NM_001407665.1:c.3625G>A
NM_001407666.1:c.3625G>A
NM_001407667.1:c.3625G>A
NM_001407668.1:c.3625G>A
NM_001407669.1:c.3625G>A
NM_001407670.1:c.3622G>A
NM_001407671.1:c.3622G>A
NM_001407672.1:c.3622G>A
NM_001407673.1:c.3622G>A
NM_001407674.1:c.3625G>A
NM_001407675.1:c.3625G>A
NM_001407676.1:c.3625G>A
NM_001407677.1:c.3625G>A
NM_001407678.1:c.3625G>A
NM_001407679.1:c.3625G>A
NM_001407680.1:c.3625G>A
NM_001407681.1:c.3625G>A
NM_001407682.1:c.3625G>A
NM_001407683.1:c.3625G>A
NM_001407684.1:c.3748G>A
NM_001407685.1:c.3622G>A
NM_001407686.1:c.3622G>A
NM_001407687.1:c.3622G>A
NM_001407688.1:c.3622G>A
NM_001407689.1:c.3622G>A
NM_001407690.1:c.3622G>A
NM_001407691.1:c.3622G>A
NM_001407692.1:c.3607G>A
NM_001407694.1:c.3607G>A
NM_001407695.1:c.3607G>A
NM_001407696.1:c.3607G>A
NM_001407697.1:c.3607G>A
NM_001407698.1:c.3607G>A
NM_001407724.1:c.3607G>A
NM_001407725.1:c.3607G>A
NM_001407726.1:c.3607G>A
NM_001407727.1:c.3607G>A
NM_001407728.1:c.3607G>A
NM_001407729.1:c.3607G>A
NM_001407730.1:c.3607G>A
NM_001407731.1:c.3607G>A
NM_001407732.1:c.3607G>A
NM_001407733.1:c.3607G>A
NM_001407734.1:c.3607G>A
NM_001407735.1:c.3607G>A
NM_001407736.1:c.3607G>A
NM_001407737.1:c.3607G>A
NM_001407738.1:c.3607G>A
NM_001407739.1:c.3607G>A
NM_001407740.1:c.3604G>A
NM_001407741.1:c.3604G>A
NM_001407742.1:c.3604G>A
NM_001407743.1:c.3604G>A
NM_001407744.1:c.3604G>A
NM_001407745.1:c.3604G>A
NM_001407746.1:c.3604G>A
NM_001407747.1:c.3604G>A
NM_001407748.1:c.3604G>A
NM_001407749.1:c.3604G>A
NM_001407750.1:c.3607G>A
NM_001407751.1:c.3607G>A
NM_001407752.1:c.3607G>A
NM_001407838.1:c.3604G>A
NM_001407839.1:c.3604G>A
NM_001407841.1:c.3604G>A
NM_001407842.1:c.3604G>A
NM_001407843.1:c.3604G>A
NM_001407844.1:c.3604G>A
NM_001407845.1:c.3604G>A
NM_001407846.1:c.3604G>A
NM_001407847.1:c.3604G>A
NM_001407848.1:c.3604G>A
NM_001407849.1:c.3604G>A
NM_001407850.1:c.3607G>A
NM_001407851.1:c.3607G>A
NM_001407852.1:c.3607G>A
NM_001407853.1:c.3535G>A
NM_001407854.1:c.3748G>A
NM_001407858.1:c.3748G>A
NM_001407859.1:c.3748G>A
NM_001407860.1:c.3745G>A
NM_001407861.1:c.3745G>A
NM_001407862.1:c.3547G>A
NM_001407863.1:c.3625G>A
NM_001407874.1:c.3544G>A
NM_001407875.1:c.3544G>A
NM_001407879.1:c.3538G>A
NM_001407881.1:c.3538G>A
NM_001407882.1:c.3538G>A
NM_001407884.1:c.3538G>A
NM_001407885.1:c.3538G>A
NM_001407886.1:c.3538G>A
NM_001407887.1:c.3538G>A
NM_001407889.1:c.3538G>A
NM_001407894.1:c.3535G>A
NM_001407895.1:c.3535G>A
NM_001407896.1:c.3535G>A
NM_001407897.1:c.3535G>A
NM_001407898.1:c.3535G>A
NM_001407899.1:c.3535G>A
NM_001407900.1:c.3538G>A
NM_001407902.1:c.3538G>A
NM_001407904.1:c.3538G>A
NM_001407906.1:c.3538G>A
NM_001407907.1:c.3538G>A
NM_001407908.1:c.3538G>A
NM_001407909.1:c.3538G>A
NM_001407910.1:c.3538G>A
NM_001407915.1:c.3535G>A
NM_001407916.1:c.3535G>A
NM_001407917.1:c.3535G>A
NM_001407918.1:c.3535G>A
NM_001407919.1:c.3625G>A
NM_001407920.1:c.3484G>A
NM_001407921.1:c.3484G>A
NM_001407922.1:c.3484G>A
NM_001407923.1:c.3484G>A
NM_001407924.1:c.3484G>A
NM_001407925.1:c.3484G>A
NM_001407926.1:c.3484G>A
NM_001407927.1:c.3484G>A
NM_001407928.1:c.3484G>A
NM_001407929.1:c.3484G>A
NM_001407930.1:c.3481G>A
NM_001407931.1:c.3481G>A
NM_001407932.1:c.3481G>A
NM_001407933.1:c.3484G>A
NM_001407934.1:c.3481G>A
NM_001407935.1:c.3484G>A
NM_001407936.1:c.3481G>A
NM_001407937.1:c.3625G>A
NM_001407938.1:c.3625G>A
NM_001407939.1:c.3625G>A
NM_001407940.1:c.3622G>A
NM_001407941.1:c.3622G>A
NM_001407942.1:c.3607G>A
NM_001407943.1:c.3604G>A
NM_001407944.1:c.3607G>A
NM_001407945.1:c.3607G>A
NM_001407946.1:c.3415G>A
NM_001407947.1:c.3415G>A
NM_001407948.1:c.3415G>A
NM_001407949.1:c.3415G>A
NM_001407950.1:c.3415G>A
NM_001407951.1:c.3415G>A
NM_001407952.1:c.3415G>A
NM_001407953.1:c.3415G>A
NM_001407954.1:c.3412G>A
NM_001407955.1:c.3412G>A
NM_001407956.1:c.3412G>A
NM_001407957.1:c.3415G>A
NM_001407958.1:c.3412G>A
NM_001407959.1:c.3367G>A
NM_001407960.1:c.3367G>A
NM_001407962.1:c.3364G>A
NM_001407963.1:c.3367G>A
NM_001407964.1:c.3604G>A
NM_001407965.1:c.3244G>A
NM_001407966.1:c.2860G>A
NM_001407967.1:c.2860G>A
NM_001407968.1:c.1144G>A
NM_001407969.1:c.1144G>A
NM_001407970.1:c.788-751G>A
NM_001407971.1:c.788-751G>A
NM_001407972.1:c.785-751G>A
NM_001407973.1:c.788-751G>A
NM_001407974.1:c.788-751G>A
NM_001407975.1:c.788-751G>A
NM_001407976.1:c.788-751G>A
NM_001407977.1:c.788-751G>A
NM_001407978.1:c.788-751G>A
NM_001407979.1:c.788-751G>A
NM_001407980.1:c.788-751G>A
NM_001407981.1:c.788-751G>A
NM_001407982.1:c.788-751G>A
NM_001407983.1:c.788-751G>A
NM_001407984.1:c.785-751G>A
NM_001407985.1:c.785-751G>A
NM_001407986.1:c.785-751G>A
NM_001407990.1:c.788-751G>A
NM_001407991.1:c.785-751G>A
NM_001407992.1:c.785-751G>A
NM_001407993.1:c.788-751G>A
NM_001408392.1:c.785-751G>A
NM_001408396.1:c.785-751G>A
NM_001408397.1:c.785-751G>A
NM_001408398.1:c.785-751G>A
NM_001408399.1:c.785-751G>A
NM_001408400.1:c.785-751G>A
NM_001408401.1:c.785-751G>A
NM_001408402.1:c.785-751G>A
NM_001408403.1:c.788-751G>A
NM_001408404.1:c.788-751G>A
NM_001408406.1:c.791-760G>A
NM_001408407.1:c.785-751G>A
NM_001408408.1:c.779-751G>A
NM_001408409.1:c.710-751G>A
NM_001408410.1:c.647-751G>A
NM_001408411.1:c.710-751G>A
NM_001408412.1:c.710-751G>A
NM_001408413.1:c.707-751G>A
NM_001408414.1:c.710-751G>A
NM_001408415.1:c.710-751G>A
NM_001408416.1:c.707-751G>A
NM_001408418.1:c.671-751G>A
NM_001408419.1:c.671-751G>A
NM_001408420.1:c.671-751G>A
NM_001408421.1:c.668-751G>A
NM_001408422.1:c.671-751G>A
NM_001408423.1:c.671-751G>A
NM_001408424.1:c.668-751G>A
NM_001408425.1:c.665-751G>A
NM_001408426.1:c.665-751G>A
NM_001408427.1:c.665-751G>A
NM_001408428.1:c.665-751G>A
NM_001408429.1:c.665-751G>A
NM_001408430.1:c.665-751G>A
NM_001408431.1:c.668-751G>A
NM_001408432.1:c.662-751G>A
NM_001408433.1:c.662-751G>A
NM_001408434.1:c.662-751G>A
NM_001408435.1:c.662-751G>A
NM_001408436.1:c.665-751G>A
NM_001408437.1:c.665-751G>A
NM_001408438.1:c.665-751G>A
NM_001408439.1:c.665-751G>A
NM_001408440.1:c.665-751G>A
NM_001408441.1:c.665-751G>A
NM_001408442.1:c.665-751G>A
NM_001408443.1:c.665-751G>A
NM_001408444.1:c.665-751G>A
NM_001408445.1:c.662-751G>A
NM_001408446.1:c.662-751G>A
NM_001408447.1:c.662-751G>A
NM_001408448.1:c.662-751G>A
NM_001408450.1:c.662-751G>A
NM_001408451.1:c.653-751G>A
NM_001408452.1:c.647-751G>A
NM_001408453.1:c.647-751G>A
NM_001408454.1:c.647-751G>A
NM_001408455.1:c.647-751G>A
NM_001408456.1:c.647-751G>A
NM_001408457.1:c.647-751G>A
NM_001408458.1:c.647-751G>A
NM_001408459.1:c.647-751G>A
NM_001408460.1:c.647-751G>A
NM_001408461.1:c.647-751G>A
NM_001408462.1:c.644-751G>A
NM_001408463.1:c.644-751G>A
NM_001408464.1:c.644-751G>A
NM_001408465.1:c.644-751G>A
NM_001408466.1:c.647-751G>A
NM_001408467.1:c.647-751G>A
NM_001408468.1:c.644-751G>A
NM_001408469.1:c.647-751G>A
NM_001408470.1:c.644-751G>A
NM_001408472.1:c.788-751G>A
NM_001408473.1:c.785-751G>A
NM_001408474.1:c.587-751G>A
NM_001408475.1:c.584-751G>A
NM_001408476.1:c.587-751G>A
NM_001408478.1:c.578-751G>A
NM_001408479.1:c.578-751G>A
NM_001408480.1:c.578-751G>A
NM_001408481.1:c.578-751G>A
NM_001408482.1:c.578-751G>A
NM_001408483.1:c.578-751G>A
NM_001408484.1:c.578-751G>A
NM_001408485.1:c.578-751G>A
NM_001408489.1:c.578-751G>A
NM_001408490.1:c.575-751G>A
NM_001408491.1:c.575-751G>A
NM_001408492.1:c.578-751G>A
NM_001408493.1:c.575-751G>A
NM_001408494.1:c.548-751G>A
NM_001408495.1:c.545-751G>A
NM_001408496.1:c.524-751G>A
NM_001408497.1:c.524-751G>A
NM_001408498.1:c.524-751G>A
NM_001408499.1:c.524-751G>A
NM_001408500.1:c.524-751G>A
NM_001408501.1:c.524-751G>A
NM_001408502.1:c.455-751G>A
NM_001408503.1:c.521-751G>A
NM_001408504.1:c.521-751G>A
NM_001408505.1:c.521-751G>A
NM_001408506.1:c.461-751G>A
NM_001408507.1:c.461-751G>A
NM_001408508.1:c.452-751G>A
NM_001408509.1:c.452-751G>A
NM_001408510.1:c.407-751G>A
NM_001408511.1:c.404-751G>A
NM_001408512.1:c.284-751G>A
NM_001408513.1:c.578-751G>A
NM_001408514.1:c.578-751G>A
NM_007294.4:c.3748G>AMANE SELECT
NM_007297.4:c.3607G>A
NM_007298.4:c.788-751G>A
NM_007299.4:c.788-751G>A
NM_007300.4:c.3748G>A
NP_001394500.1:p.Glu1179Lys
NP_001394510.1:p.Glu1250Lys
NP_001394511.1:p.Glu1250Lys
NP_001394512.1:p.Glu1250Lys
NP_001394514.1:p.Glu1250Lys
NP_001394516.1:p.Glu1249Lys
NP_001394519.1:p.Glu1249Lys
NP_001394520.1:p.Glu1249Lys
NP_001394522.1:p.Glu1250Lys
NP_001394523.1:p.Glu1250Lys
NP_001394525.1:p.Glu1250Lys
NP_001394526.1:p.Glu1250Lys
NP_001394527.1:p.Glu1250Lys
NP_001394531.1:p.Glu1250Lys
NP_001394532.1:p.Glu1250Lys
NP_001394534.1:p.Glu1250Lys
NP_001394539.1:p.Glu1249Lys
NP_001394540.1:p.Glu1249Lys
NP_001394541.1:p.Glu1249Lys
NP_001394542.1:p.Glu1249Lys
NP_001394543.1:p.Glu1249Lys
NP_001394544.1:p.Glu1249Lys
NP_001394545.1:p.Glu1250Lys
NP_001394546.1:p.Glu1250Lys
NP_001394547.1:p.Glu1250Lys
NP_001394548.1:p.Glu1250Lys
NP_001394549.1:p.Glu1250Lys
NP_001394550.1:p.Glu1250Lys
NP_001394551.1:p.Glu1250Lys
NP_001394552.1:p.Glu1250Lys
NP_001394553.1:p.Glu1250Lys
NP_001394554.1:p.Glu1250Lys
NP_001394555.1:p.Glu1250Lys
NP_001394556.1:p.Glu1249Lys
NP_001394557.1:p.Glu1249Lys
NP_001394558.1:p.Glu1249Lys
NP_001394559.1:p.Glu1249Lys
NP_001394560.1:p.Glu1249Lys
NP_001394561.1:p.Glu1249Lys
NP_001394562.1:p.Glu1249Lys
NP_001394563.1:p.Glu1249Lys
NP_001394564.1:p.Glu1249Lys
NP_001394565.1:p.Glu1249Lys
NP_001394566.1:p.Glu1249Lys
NP_001394567.1:p.Glu1249Lys
NP_001394568.1:p.Glu1250Lys
NP_001394569.1:p.Glu1250Lys
NP_001394570.1:p.Glu1250Lys
NP_001394571.1:p.Glu1250Lys
NP_001394573.1:p.Glu1249Lys
NP_001394574.1:p.Glu1249Lys
NP_001394575.1:p.Glu1247Lys
NP_001394576.1:p.Glu1247Lys
NP_001394577.1:p.Glu1209Lys
NP_001394578.1:p.Glu1208Lys
NP_001394581.1:p.Glu1250Lys
NP_001394582.1:p.Glu1224Lys
NP_001394583.1:p.Glu1224Lys
NP_001394584.1:p.Glu1224Lys
NP_001394585.1:p.Glu1224Lys
NP_001394586.1:p.Glu1224Lys
NP_001394587.1:p.Glu1224Lys
NP_001394588.1:p.Glu1223Lys
NP_001394589.1:p.Glu1223Lys
NP_001394590.1:p.Glu1223Lys
NP_001394591.1:p.Glu1223Lys
NP_001394592.1:p.Glu1224Lys
NP_001394593.1:p.Glu1209Lys
NP_001394594.1:p.Glu1209Lys
NP_001394595.1:p.Glu1209Lys
NP_001394596.1:p.Glu1209Lys
NP_001394597.1:p.Glu1209Lys
NP_001394598.1:p.Glu1209Lys
NP_001394599.1:p.Glu1208Lys
NP_001394600.1:p.Glu1208Lys
NP_001394601.1:p.Glu1208Lys
NP_001394602.1:p.Glu1208Lys
NP_001394603.1:p.Glu1209Lys
NP_001394604.1:p.Glu1209Lys
NP_001394605.1:p.Glu1209Lys
NP_001394606.1:p.Glu1209Lys
NP_001394607.1:p.Glu1209Lys
NP_001394608.1:p.Glu1209Lys
NP_001394609.1:p.Glu1209Lys
NP_001394610.1:p.Glu1209Lys
NP_001394611.1:p.Glu1209Lys
NP_001394612.1:p.Glu1209Lys
NP_001394613.1:p.Glu1250Lys
NP_001394614.1:p.Glu1208Lys
NP_001394615.1:p.Glu1208Lys
NP_001394616.1:p.Glu1208Lys
NP_001394617.1:p.Glu1208Lys
NP_001394618.1:p.Glu1208Lys
NP_001394619.1:p.Glu1208Lys
NP_001394620.1:p.Glu1208Lys
NP_001394621.1:p.Glu1203Lys
NP_001394623.1:p.Glu1203Lys
NP_001394624.1:p.Glu1203Lys
NP_001394625.1:p.Glu1203Lys
NP_001394626.1:p.Glu1203Lys
NP_001394627.1:p.Glu1203Lys
NP_001394653.1:p.Glu1203Lys
NP_001394654.1:p.Glu1203Lys
NP_001394655.1:p.Glu1203Lys
NP_001394656.1:p.Glu1203Lys
NP_001394657.1:p.Glu1203Lys
NP_001394658.1:p.Glu1203Lys
NP_001394659.1:p.Glu1203Lys
NP_001394660.1:p.Glu1203Lys
NP_001394661.1:p.Glu1203Lys
NP_001394662.1:p.Glu1203Lys
NP_001394663.1:p.Glu1203Lys
NP_001394664.1:p.Glu1203Lys
NP_001394665.1:p.Glu1203Lys
NP_001394666.1:p.Glu1203Lys
NP_001394667.1:p.Glu1203Lys
NP_001394668.1:p.Glu1203Lys
NP_001394669.1:p.Glu1202Lys
NP_001394670.1:p.Glu1202Lys
NP_001394671.1:p.Glu1202Lys
NP_001394672.1:p.Glu1202Lys
NP_001394673.1:p.Glu1202Lys
NP_001394674.1:p.Glu1202Lys
NP_001394675.1:p.Glu1202Lys
NP_001394676.1:p.Glu1202Lys
NP_001394677.1:p.Glu1202Lys
NP_001394678.1:p.Glu1202Lys
NP_001394679.1:p.Glu1203Lys
NP_001394680.1:p.Glu1203Lys
NP_001394681.1:p.Glu1203Lys
NP_001394767.1:p.Glu1202Lys
NP_001394768.1:p.Glu1202Lys
NP_001394770.1:p.Glu1202Lys
NP_001394771.1:p.Glu1202Lys
NP_001394772.1:p.Glu1202Lys
NP_001394773.1:p.Glu1202Lys
NP_001394774.1:p.Glu1202Lys
NP_001394775.1:p.Glu1202Lys
NP_001394776.1:p.Glu1202Lys
NP_001394777.1:p.Glu1202Lys
NP_001394778.1:p.Glu1202Lys
NP_001394779.1:p.Glu1203Lys
NP_001394780.1:p.Glu1203Lys
NP_001394781.1:p.Glu1203Lys
NP_001394782.1:p.Glu1179Lys
NP_001394783.1:p.Glu1250Lys
NP_001394787.1:p.Glu1250Lys
NP_001394788.1:p.Glu1250Lys
NP_001394789.1:p.Glu1249Lys
NP_001394790.1:p.Glu1249Lys
NP_001394791.1:p.Glu1183Lys
NP_001394792.1:p.Glu1209Lys
NP_001394803.1:p.Glu1182Lys
NP_001394804.1:p.Glu1182Lys
NP_001394808.1:p.Glu1180Lys
NP_001394810.1:p.Glu1180Lys
NP_001394811.1:p.Glu1180Lys
NP_001394813.1:p.Glu1180Lys
NP_001394814.1:p.Glu1180Lys
NP_001394815.1:p.Glu1180Lys
NP_001394816.1:p.Glu1180Lys
NP_001394818.1:p.Glu1180Lys
NP_001394823.1:p.Glu1179Lys
NP_001394824.1:p.Glu1179Lys
NP_001394825.1:p.Glu1179Lys
NP_001394826.1:p.Glu1179Lys
NP_001394827.1:p.Glu1179Lys
NP_001394828.1:p.Glu1179Lys
NP_001394829.1:p.Glu1180Lys
NP_001394831.1:p.Glu1180Lys
NP_001394833.1:p.Glu1180Lys
NP_001394835.1:p.Glu1180Lys
NP_001394836.1:p.Glu1180Lys
NP_001394837.1:p.Glu1180Lys
NP_001394838.1:p.Glu1180Lys
NP_001394839.1:p.Glu1180Lys
NP_001394844.1:p.Glu1179Lys
NP_001394845.1:p.Glu1179Lys
NP_001394846.1:p.Glu1179Lys
NP_001394847.1:p.Glu1179Lys
NP_001394848.1:p.Glu1209Lys
NP_001394849.1:p.Glu1162Lys
NP_001394850.1:p.Glu1162Lys
NP_001394851.1:p.Glu1162Lys
NP_001394852.1:p.Glu1162Lys
NP_001394853.1:p.Glu1162Lys
NP_001394854.1:p.Glu1162Lys
NP_001394855.1:p.Glu1162Lys
NP_001394856.1:p.Glu1162Lys
NP_001394857.1:p.Glu1162Lys
NP_001394858.1:p.Glu1162Lys
NP_001394859.1:p.Glu1161Lys
NP_001394860.1:p.Glu1161Lys
NP_001394861.1:p.Glu1161Lys
NP_001394862.1:p.Glu1162Lys
NP_001394863.1:p.Glu1161Lys
NP_001394864.1:p.Glu1162Lys
NP_001394865.1:p.Glu1161Lys
NP_001394866.1:p.Glu1209Lys
NP_001394867.1:p.Glu1209Lys
NP_001394868.1:p.Glu1209Lys
NP_001394869.1:p.Glu1208Lys
NP_001394870.1:p.Glu1208Lys
NP_001394871.1:p.Glu1203Lys
NP_001394872.1:p.Glu1202Lys
NP_001394873.1:p.Glu1203Lys
NP_001394874.1:p.Glu1203Lys
NP_001394875.1:p.Glu1139Lys
NP_001394876.1:p.Glu1139Lys
NP_001394877.1:p.Glu1139Lys
NP_001394878.1:p.Glu1139Lys
NP_001394879.1:p.Glu1139Lys
NP_001394880.1:p.Glu1139Lys
NP_001394881.1:p.Glu1139Lys
NP_001394882.1:p.Glu1139Lys
NP_001394883.1:p.Glu1138Lys
NP_001394884.1:p.Glu1138Lys
NP_001394885.1:p.Glu1138Lys
NP_001394886.1:p.Glu1139Lys
NP_001394887.1:p.Glu1138Lys
NP_001394888.1:p.Glu1123Lys
NP_001394889.1:p.Glu1123Lys
NP_001394891.1:p.Glu1122Lys
NP_001394892.1:p.Glu1123Lys
NP_001394893.1:p.Glu1202Lys
NP_001394894.1:p.Glu1082Lys
NP_001394895.1:p.Glu954Lys
NP_001394896.1:p.Glu954Lys
NP_001394897.1:p.Glu382Lys
NP_001394898.1:p.Glu382Lys
NP_009225.1:p.Glu1250Lys
NP_009225.1:p.Glu1250Lys
NP_009228.2:p.Glu1203Lys
NP_009231.2:p.Glu1250Lys
LRG_292t1:c.3748G>A
LRG_292:g.126201G>A
LRG_292p1:p.Glu1250Lys
NC_000017.10:g.41243800C>T
NM_007294.2:c.3748G>A
NM_007294.3:c.3748G>A
NM_007294.4:c.3748G>A
NM_007300.3:c.3748G>A
NR_027676.1:n.3884G>A
P38398:p.Glu1250Lys
U14680.1:n.3867G>A
p.E1250K

Protein change:

E1082K

Links:

BRCA1-HCI: BRCA1_00021; UniProtKB: P38398#VAR_052079; dbSNP: rs28897686

NCBI 1000 Genomes Browser:

rs28897686

Molecular consequence:

NM_001407970.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-760G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-751G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3739G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3739G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3544G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3544G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3367G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3367G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3367G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2860G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2860G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084448	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000167297	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 23, 2014)	germline	clinical testing	Citation Link,
SCV000538442	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 29, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000806940	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001799534	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001906200	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001957357	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002069981	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 24, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002550990	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

See all PubMed Citations (3)

Details of each submission

From ITMI, SCV000084448.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.0015	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From GeneDx, SCV000167297.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538442.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 30/66732 European; ClinVar: 6 B/LB

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000806940.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799534.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906200.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957357.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV002069981.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550990.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

Relating variation to medicine