NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112270.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)]

NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)

HGVS:

NC_000017.11:g.43090981G>C
NG_005905.2:g.127003C>G
NM_001407571.1:c.3935C>G
NM_001407581.1:c.4148C>G
NM_001407582.1:c.4148C>G
NM_001407583.1:c.4148C>G
NM_001407585.1:c.4148C>G
NM_001407587.1:c.4145C>G
NM_001407590.1:c.4145C>G
NM_001407591.1:c.4145C>G
NM_001407593.1:c.4148C>G
NM_001407594.1:c.4148C>G
NM_001407596.1:c.4148C>G
NM_001407597.1:c.4148C>G
NM_001407598.1:c.4148C>G
NM_001407602.1:c.4148C>G
NM_001407603.1:c.4148C>G
NM_001407605.1:c.4148C>G
NM_001407610.1:c.4145C>G
NM_001407611.1:c.4145C>G
NM_001407612.1:c.4145C>G
NM_001407613.1:c.4145C>G
NM_001407614.1:c.4145C>G
NM_001407615.1:c.4145C>G
NM_001407616.1:c.4148C>G
NM_001407617.1:c.4148C>G
NM_001407618.1:c.4148C>G
NM_001407619.1:c.4148C>G
NM_001407620.1:c.4148C>G
NM_001407621.1:c.4148C>G
NM_001407622.1:c.4148C>G
NM_001407623.1:c.4148C>G
NM_001407624.1:c.4148C>G
NM_001407625.1:c.4148C>G
NM_001407626.1:c.4148C>G
NM_001407627.1:c.4145C>G
NM_001407628.1:c.4145C>G
NM_001407629.1:c.4145C>G
NM_001407630.1:c.4145C>G
NM_001407631.1:c.4145C>G
NM_001407632.1:c.4145C>G
NM_001407633.1:c.4145C>G
NM_001407634.1:c.4145C>G
NM_001407635.1:c.4145C>G
NM_001407636.1:c.4145C>G
NM_001407637.1:c.4145C>G
NM_001407638.1:c.4145C>G
NM_001407639.1:c.4148C>G
NM_001407640.1:c.4148C>G
NM_001407641.1:c.4148C>G
NM_001407642.1:c.4148C>G
NM_001407644.1:c.4145C>G
NM_001407645.1:c.4145C>G
NM_001407646.1:c.4139C>G
NM_001407647.1:c.4139C>G
NM_001407648.1:c.4025C>G
NM_001407649.1:c.4022C>G
NM_001407652.1:c.4148C>G
NM_001407653.1:c.4070C>G
NM_001407654.1:c.4070C>G
NM_001407655.1:c.4070C>G
NM_001407656.1:c.4070C>G
NM_001407657.1:c.4070C>G
NM_001407658.1:c.4070C>G
NM_001407659.1:c.4067C>G
NM_001407660.1:c.4067C>G
NM_001407661.1:c.4067C>G
NM_001407662.1:c.4067C>G
NM_001407663.1:c.4070C>G
NM_001407664.1:c.4025C>G
NM_001407665.1:c.4025C>G
NM_001407666.1:c.4025C>G
NM_001407667.1:c.4025C>G
NM_001407668.1:c.4025C>G
NM_001407669.1:c.4025C>G
NM_001407670.1:c.4022C>G
NM_001407671.1:c.4022C>G
NM_001407672.1:c.4022C>G
NM_001407673.1:c.4022C>G
NM_001407674.1:c.4025C>G
NM_001407675.1:c.4025C>G
NM_001407676.1:c.4025C>G
NM_001407677.1:c.4025C>G
NM_001407678.1:c.4025C>G
NM_001407679.1:c.4025C>G
NM_001407680.1:c.4025C>G
NM_001407681.1:c.4025C>G
NM_001407682.1:c.4025C>G
NM_001407683.1:c.4025C>G
NM_001407684.1:c.4148C>G
NM_001407685.1:c.4022C>G
NM_001407686.1:c.4022C>G
NM_001407687.1:c.4022C>G
NM_001407688.1:c.4022C>G
NM_001407689.1:c.4022C>G
NM_001407690.1:c.4022C>G
NM_001407691.1:c.4022C>G
NM_001407692.1:c.4007C>G
NM_001407694.1:c.4007C>G
NM_001407695.1:c.4007C>G
NM_001407696.1:c.4007C>G
NM_001407697.1:c.4007C>G
NM_001407698.1:c.4007C>G
NM_001407724.1:c.4007C>G
NM_001407725.1:c.4007C>G
NM_001407726.1:c.4007C>G
NM_001407727.1:c.4007C>G
NM_001407728.1:c.4007C>G
NM_001407729.1:c.4007C>G
NM_001407730.1:c.4007C>G
NM_001407731.1:c.4007C>G
NM_001407732.1:c.4007C>G
NM_001407733.1:c.4007C>G
NM_001407734.1:c.4007C>G
NM_001407735.1:c.4007C>G
NM_001407736.1:c.4007C>G
NM_001407737.1:c.4007C>G
NM_001407738.1:c.4007C>G
NM_001407739.1:c.4007C>G
NM_001407740.1:c.4004C>G
NM_001407741.1:c.4004C>G
NM_001407742.1:c.4004C>G
NM_001407743.1:c.4004C>G
NM_001407744.1:c.4004C>G
NM_001407745.1:c.4004C>G
NM_001407746.1:c.4004C>G
NM_001407747.1:c.4004C>G
NM_001407748.1:c.4004C>G
NM_001407749.1:c.4004C>G
NM_001407750.1:c.4007C>G
NM_001407751.1:c.4007C>G
NM_001407752.1:c.4007C>G
NM_001407838.1:c.4004C>G
NM_001407839.1:c.4004C>G
NM_001407841.1:c.4004C>G
NM_001407842.1:c.4004C>G
NM_001407843.1:c.4004C>G
NM_001407844.1:c.4004C>G
NM_001407845.1:c.4004C>G
NM_001407846.1:c.4004C>G
NM_001407847.1:c.4004C>G
NM_001407848.1:c.4004C>G
NM_001407849.1:c.4004C>G
NM_001407850.1:c.4007C>G
NM_001407851.1:c.4007C>G
NM_001407852.1:c.4007C>G
NM_001407853.1:c.3935C>G
NM_001407854.1:c.4148C>G
NM_001407858.1:c.4148C>G
NM_001407859.1:c.4148C>G
NM_001407860.1:c.4145C>G
NM_001407861.1:c.4145C>G
NM_001407862.1:c.3947C>G
NM_001407863.1:c.4025C>G
NM_001407874.1:c.3944C>G
NM_001407875.1:c.3944C>G
NM_001407879.1:c.3938C>G
NM_001407881.1:c.3938C>G
NM_001407882.1:c.3938C>G
NM_001407884.1:c.3938C>G
NM_001407885.1:c.3938C>G
NM_001407886.1:c.3938C>G
NM_001407887.1:c.3938C>G
NM_001407889.1:c.3938C>G
NM_001407894.1:c.3935C>G
NM_001407895.1:c.3935C>G
NM_001407896.1:c.3935C>G
NM_001407897.1:c.3935C>G
NM_001407898.1:c.3935C>G
NM_001407899.1:c.3935C>G
NM_001407900.1:c.3938C>G
NM_001407902.1:c.3938C>G
NM_001407904.1:c.3938C>G
NM_001407906.1:c.3938C>G
NM_001407907.1:c.3938C>G
NM_001407908.1:c.3938C>G
NM_001407909.1:c.3938C>G
NM_001407910.1:c.3938C>G
NM_001407915.1:c.3935C>G
NM_001407916.1:c.3935C>G
NM_001407917.1:c.3935C>G
NM_001407918.1:c.3935C>G
NM_001407919.1:c.4025C>G
NM_001407920.1:c.3884C>G
NM_001407921.1:c.3884C>G
NM_001407922.1:c.3884C>G
NM_001407923.1:c.3884C>G
NM_001407924.1:c.3884C>G
NM_001407925.1:c.3884C>G
NM_001407926.1:c.3884C>G
NM_001407927.1:c.3884C>G
NM_001407928.1:c.3884C>G
NM_001407929.1:c.3884C>G
NM_001407930.1:c.3881C>G
NM_001407931.1:c.3881C>G
NM_001407932.1:c.3881C>G
NM_001407933.1:c.3884C>G
NM_001407934.1:c.3881C>G
NM_001407935.1:c.3884C>G
NM_001407936.1:c.3881C>G
NM_001407937.1:c.4025C>G
NM_001407938.1:c.4025C>G
NM_001407939.1:c.4025C>G
NM_001407940.1:c.4022C>G
NM_001407941.1:c.4022C>G
NM_001407942.1:c.4007C>G
NM_001407943.1:c.4004C>G
NM_001407944.1:c.4007C>G
NM_001407945.1:c.4007C>G
NM_001407946.1:c.3815C>G
NM_001407947.1:c.3815C>G
NM_001407948.1:c.3815C>G
NM_001407949.1:c.3815C>G
NM_001407950.1:c.3815C>G
NM_001407951.1:c.3815C>G
NM_001407952.1:c.3815C>G
NM_001407953.1:c.3815C>G
NM_001407954.1:c.3812C>G
NM_001407955.1:c.3812C>G
NM_001407956.1:c.3812C>G
NM_001407957.1:c.3815C>G
NM_001407958.1:c.3812C>G
NM_001407959.1:c.3767C>G
NM_001407960.1:c.3767C>G
NM_001407962.1:c.3764C>G
NM_001407963.1:c.3767C>G
NM_001407964.1:c.4004C>G
NM_001407965.1:c.3644C>G
NM_001407966.1:c.3260C>G
NM_001407967.1:c.3260C>G
NM_001407968.1:c.1544C>G
NM_001407969.1:c.1544C>G
NM_001407970.1:c.839C>G
NM_001407971.1:c.839C>G
NM_001407972.1:c.836C>G
NM_001407973.1:c.839C>G
NM_001407974.1:c.839C>G
NM_001407975.1:c.839C>G
NM_001407976.1:c.839C>G
NM_001407977.1:c.839C>G
NM_001407978.1:c.839C>G
NM_001407979.1:c.839C>G
NM_001407980.1:c.839C>G
NM_001407981.1:c.839C>G
NM_001407982.1:c.839C>G
NM_001407983.1:c.839C>G
NM_001407984.1:c.836C>G
NM_001407985.1:c.836C>G
NM_001407986.1:c.836C>G
NM_001407990.1:c.839C>G
NM_001407991.1:c.836C>G
NM_001407992.1:c.836C>G
NM_001407993.1:c.839C>G
NM_001408392.1:c.836C>G
NM_001408396.1:c.836C>G
NM_001408397.1:c.836C>G
NM_001408398.1:c.836C>G
NM_001408399.1:c.836C>G
NM_001408400.1:c.836C>G
NM_001408401.1:c.836C>G
NM_001408402.1:c.836C>G
NM_001408403.1:c.839C>G
NM_001408404.1:c.839C>G
NM_001408406.1:c.833C>G
NM_001408407.1:c.836C>G
NM_001408408.1:c.830C>G
NM_001408409.1:c.761C>G
NM_001408410.1:c.698C>G
NM_001408411.1:c.761C>G
NM_001408412.1:c.761C>G
NM_001408413.1:c.758C>G
NM_001408414.1:c.761C>G
NM_001408415.1:c.761C>G
NM_001408416.1:c.758C>G
NM_001408418.1:c.722C>G
NM_001408419.1:c.722C>G
NM_001408420.1:c.722C>G
NM_001408421.1:c.719C>G
NM_001408422.1:c.722C>G
NM_001408423.1:c.722C>G
NM_001408424.1:c.719C>G
NM_001408425.1:c.716C>G
NM_001408426.1:c.716C>G
NM_001408427.1:c.716C>G
NM_001408428.1:c.716C>G
NM_001408429.1:c.716C>G
NM_001408430.1:c.716C>G
NM_001408431.1:c.719C>G
NM_001408432.1:c.713C>G
NM_001408433.1:c.713C>G
NM_001408434.1:c.713C>G
NM_001408435.1:c.713C>G
NM_001408436.1:c.716C>G
NM_001408437.1:c.716C>G
NM_001408438.1:c.716C>G
NM_001408439.1:c.716C>G
NM_001408440.1:c.716C>G
NM_001408441.1:c.716C>G
NM_001408442.1:c.716C>G
NM_001408443.1:c.716C>G
NM_001408444.1:c.716C>G
NM_001408445.1:c.713C>G
NM_001408446.1:c.713C>G
NM_001408447.1:c.713C>G
NM_001408448.1:c.713C>G
NM_001408450.1:c.713C>G
NM_001408451.1:c.704C>G
NM_001408452.1:c.698C>G
NM_001408453.1:c.698C>G
NM_001408454.1:c.698C>G
NM_001408455.1:c.698C>G
NM_001408456.1:c.698C>G
NM_001408457.1:c.698C>G
NM_001408458.1:c.698C>G
NM_001408459.1:c.698C>G
NM_001408460.1:c.698C>G
NM_001408461.1:c.698C>G
NM_001408462.1:c.695C>G
NM_001408463.1:c.695C>G
NM_001408464.1:c.695C>G
NM_001408465.1:c.695C>G
NM_001408466.1:c.698C>G
NM_001408467.1:c.698C>G
NM_001408468.1:c.695C>G
NM_001408469.1:c.698C>G
NM_001408470.1:c.695C>G
NM_001408472.1:c.839C>G
NM_001408473.1:c.836C>G
NM_001408474.1:c.638C>G
NM_001408475.1:c.635C>G
NM_001408476.1:c.638C>G
NM_001408478.1:c.629C>G
NM_001408479.1:c.629C>G
NM_001408480.1:c.629C>G
NM_001408481.1:c.629C>G
NM_001408482.1:c.629C>G
NM_001408483.1:c.629C>G
NM_001408484.1:c.629C>G
NM_001408485.1:c.629C>G
NM_001408489.1:c.629C>G
NM_001408490.1:c.626C>G
NM_001408491.1:c.626C>G
NM_001408492.1:c.629C>G
NM_001408493.1:c.626C>G
NM_001408494.1:c.599C>G
NM_001408495.1:c.596C>G
NM_001408496.1:c.575C>G
NM_001408497.1:c.575C>G
NM_001408498.1:c.575C>G
NM_001408499.1:c.575C>G
NM_001408500.1:c.575C>G
NM_001408501.1:c.575C>G
NM_001408502.1:c.506C>G
NM_001408503.1:c.572C>G
NM_001408504.1:c.572C>G
NM_001408505.1:c.572C>G
NM_001408506.1:c.512C>G
NM_001408507.1:c.512C>G
NM_001408508.1:c.503C>G
NM_001408509.1:c.503C>G
NM_001408510.1:c.458C>G
NM_001408511.1:c.455C>G
NM_001408512.1:c.335C>G
NM_001408513.1:c.629C>G
NM_001408514.1:c.629C>G
NM_007294.4:c.4148C>GMANE SELECT
NM_007297.4:c.4007C>G
NM_007298.4:c.839C>G
NM_007299.4:c.839C>G
NM_007300.4:c.4148C>G
NM_007304.2:c.839C>G
NP_001394500.1:p.Ser1312Ter
NP_001394510.1:p.Ser1383Ter
NP_001394511.1:p.Ser1383Ter
NP_001394512.1:p.Ser1383Ter
NP_001394514.1:p.Ser1383Ter
NP_001394516.1:p.Ser1382Ter
NP_001394519.1:p.Ser1382Ter
NP_001394520.1:p.Ser1382Ter
NP_001394522.1:p.Ser1383Ter
NP_001394523.1:p.Ser1383Ter
NP_001394525.1:p.Ser1383Ter
NP_001394526.1:p.Ser1383Ter
NP_001394527.1:p.Ser1383Ter
NP_001394531.1:p.Ser1383Ter
NP_001394532.1:p.Ser1383Ter
NP_001394534.1:p.Ser1383Ter
NP_001394539.1:p.Ser1382Ter
NP_001394540.1:p.Ser1382Ter
NP_001394541.1:p.Ser1382Ter
NP_001394542.1:p.Ser1382Ter
NP_001394543.1:p.Ser1382Ter
NP_001394544.1:p.Ser1382Ter
NP_001394545.1:p.Ser1383Ter
NP_001394546.1:p.Ser1383Ter
NP_001394547.1:p.Ser1383Ter
NP_001394548.1:p.Ser1383Ter
NP_001394549.1:p.Ser1383Ter
NP_001394550.1:p.Ser1383Ter
NP_001394551.1:p.Ser1383Ter
NP_001394552.1:p.Ser1383Ter
NP_001394553.1:p.Ser1383Ter
NP_001394554.1:p.Ser1383Ter
NP_001394555.1:p.Ser1383Ter
NP_001394556.1:p.Ser1382Ter
NP_001394557.1:p.Ser1382Ter
NP_001394558.1:p.Ser1382Ter
NP_001394559.1:p.Ser1382Ter
NP_001394560.1:p.Ser1382Ter
NP_001394561.1:p.Ser1382Ter
NP_001394562.1:p.Ser1382Ter
NP_001394563.1:p.Ser1382Ter
NP_001394564.1:p.Ser1382Ter
NP_001394565.1:p.Ser1382Ter
NP_001394566.1:p.Ser1382Ter
NP_001394567.1:p.Ser1382Ter
NP_001394568.1:p.Ser1383Ter
NP_001394569.1:p.Ser1383Ter
NP_001394570.1:p.Ser1383Ter
NP_001394571.1:p.Ser1383Ter
NP_001394573.1:p.Ser1382Ter
NP_001394574.1:p.Ser1382Ter
NP_001394575.1:p.Ser1380Ter
NP_001394576.1:p.Ser1380Ter
NP_001394577.1:p.Ser1342Ter
NP_001394578.1:p.Ser1341Ter
NP_001394581.1:p.Ser1383Ter
NP_001394582.1:p.Ser1357Ter
NP_001394583.1:p.Ser1357Ter
NP_001394584.1:p.Ser1357Ter
NP_001394585.1:p.Ser1357Ter
NP_001394586.1:p.Ser1357Ter
NP_001394587.1:p.Ser1357Ter
NP_001394588.1:p.Ser1356Ter
NP_001394589.1:p.Ser1356Ter
NP_001394590.1:p.Ser1356Ter
NP_001394591.1:p.Ser1356Ter
NP_001394592.1:p.Ser1357Ter
NP_001394593.1:p.Ser1342Ter
NP_001394594.1:p.Ser1342Ter
NP_001394595.1:p.Ser1342Ter
NP_001394596.1:p.Ser1342Ter
NP_001394597.1:p.Ser1342Ter
NP_001394598.1:p.Ser1342Ter
NP_001394599.1:p.Ser1341Ter
NP_001394600.1:p.Ser1341Ter
NP_001394601.1:p.Ser1341Ter
NP_001394602.1:p.Ser1341Ter
NP_001394603.1:p.Ser1342Ter
NP_001394604.1:p.Ser1342Ter
NP_001394605.1:p.Ser1342Ter
NP_001394606.1:p.Ser1342Ter
NP_001394607.1:p.Ser1342Ter
NP_001394608.1:p.Ser1342Ter
NP_001394609.1:p.Ser1342Ter
NP_001394610.1:p.Ser1342Ter
NP_001394611.1:p.Ser1342Ter
NP_001394612.1:p.Ser1342Ter
NP_001394613.1:p.Ser1383Ter
NP_001394614.1:p.Ser1341Ter
NP_001394615.1:p.Ser1341Ter
NP_001394616.1:p.Ser1341Ter
NP_001394617.1:p.Ser1341Ter
NP_001394618.1:p.Ser1341Ter
NP_001394619.1:p.Ser1341Ter
NP_001394620.1:p.Ser1341Ter
NP_001394621.1:p.Ser1336Ter
NP_001394623.1:p.Ser1336Ter
NP_001394624.1:p.Ser1336Ter
NP_001394625.1:p.Ser1336Ter
NP_001394626.1:p.Ser1336Ter
NP_001394627.1:p.Ser1336Ter
NP_001394653.1:p.Ser1336Ter
NP_001394654.1:p.Ser1336Ter
NP_001394655.1:p.Ser1336Ter
NP_001394656.1:p.Ser1336Ter
NP_001394657.1:p.Ser1336Ter
NP_001394658.1:p.Ser1336Ter
NP_001394659.1:p.Ser1336Ter
NP_001394660.1:p.Ser1336Ter
NP_001394661.1:p.Ser1336Ter
NP_001394662.1:p.Ser1336Ter
NP_001394663.1:p.Ser1336Ter
NP_001394664.1:p.Ser1336Ter
NP_001394665.1:p.Ser1336Ter
NP_001394666.1:p.Ser1336Ter
NP_001394667.1:p.Ser1336Ter
NP_001394668.1:p.Ser1336Ter
NP_001394669.1:p.Ser1335Ter
NP_001394670.1:p.Ser1335Ter
NP_001394671.1:p.Ser1335Ter
NP_001394672.1:p.Ser1335Ter
NP_001394673.1:p.Ser1335Ter
NP_001394674.1:p.Ser1335Ter
NP_001394675.1:p.Ser1335Ter
NP_001394676.1:p.Ser1335Ter
NP_001394677.1:p.Ser1335Ter
NP_001394678.1:p.Ser1335Ter
NP_001394679.1:p.Ser1336Ter
NP_001394680.1:p.Ser1336Ter
NP_001394681.1:p.Ser1336Ter
NP_001394767.1:p.Ser1335Ter
NP_001394768.1:p.Ser1335Ter
NP_001394770.1:p.Ser1335Ter
NP_001394771.1:p.Ser1335Ter
NP_001394772.1:p.Ser1335Ter
NP_001394773.1:p.Ser1335Ter
NP_001394774.1:p.Ser1335Ter
NP_001394775.1:p.Ser1335Ter
NP_001394776.1:p.Ser1335Ter
NP_001394777.1:p.Ser1335Ter
NP_001394778.1:p.Ser1335Ter
NP_001394779.1:p.Ser1336Ter
NP_001394780.1:p.Ser1336Ter
NP_001394781.1:p.Ser1336Ter
NP_001394782.1:p.Ser1312Ter
NP_001394783.1:p.Ser1383Ter
NP_001394787.1:p.Ser1383Ter
NP_001394788.1:p.Ser1383Ter
NP_001394789.1:p.Ser1382Ter
NP_001394790.1:p.Ser1382Ter
NP_001394791.1:p.Ser1316Ter
NP_001394792.1:p.Ser1342Ter
NP_001394803.1:p.Ser1315Ter
NP_001394804.1:p.Ser1315Ter
NP_001394808.1:p.Ser1313Ter
NP_001394810.1:p.Ser1313Ter
NP_001394811.1:p.Ser1313Ter
NP_001394813.1:p.Ser1313Ter
NP_001394814.1:p.Ser1313Ter
NP_001394815.1:p.Ser1313Ter
NP_001394816.1:p.Ser1313Ter
NP_001394818.1:p.Ser1313Ter
NP_001394823.1:p.Ser1312Ter
NP_001394824.1:p.Ser1312Ter
NP_001394825.1:p.Ser1312Ter
NP_001394826.1:p.Ser1312Ter
NP_001394827.1:p.Ser1312Ter
NP_001394828.1:p.Ser1312Ter
NP_001394829.1:p.Ser1313Ter
NP_001394831.1:p.Ser1313Ter
NP_001394833.1:p.Ser1313Ter
NP_001394835.1:p.Ser1313Ter
NP_001394836.1:p.Ser1313Ter
NP_001394837.1:p.Ser1313Ter
NP_001394838.1:p.Ser1313Ter
NP_001394839.1:p.Ser1313Ter
NP_001394844.1:p.Ser1312Ter
NP_001394845.1:p.Ser1312Ter
NP_001394846.1:p.Ser1312Ter
NP_001394847.1:p.Ser1312Ter
NP_001394848.1:p.Ser1342Ter
NP_001394849.1:p.Ser1295Ter
NP_001394850.1:p.Ser1295Ter
NP_001394851.1:p.Ser1295Ter
NP_001394852.1:p.Ser1295Ter
NP_001394853.1:p.Ser1295Ter
NP_001394854.1:p.Ser1295Ter
NP_001394855.1:p.Ser1295Ter
NP_001394856.1:p.Ser1295Ter
NP_001394857.1:p.Ser1295Ter
NP_001394858.1:p.Ser1295Ter
NP_001394859.1:p.Ser1294Ter
NP_001394860.1:p.Ser1294Ter
NP_001394861.1:p.Ser1294Ter
NP_001394862.1:p.Ser1295Ter
NP_001394863.1:p.Ser1294Ter
NP_001394864.1:p.Ser1295Ter
NP_001394865.1:p.Ser1294Ter
NP_001394866.1:p.Ser1342Ter
NP_001394867.1:p.Ser1342Ter
NP_001394868.1:p.Ser1342Ter
NP_001394869.1:p.Ser1341Ter
NP_001394870.1:p.Ser1341Ter
NP_001394871.1:p.Ser1336Ter
NP_001394872.1:p.Ser1335Ter
NP_001394873.1:p.Ser1336Ter
NP_001394874.1:p.Ser1336Ter
NP_001394875.1:p.Ser1272Ter
NP_001394876.1:p.Ser1272Ter
NP_001394877.1:p.Ser1272Ter
NP_001394878.1:p.Ser1272Ter
NP_001394879.1:p.Ser1272Ter
NP_001394880.1:p.Ser1272Ter
NP_001394881.1:p.Ser1272Ter
NP_001394882.1:p.Ser1272Ter
NP_001394883.1:p.Ser1271Ter
NP_001394884.1:p.Ser1271Ter
NP_001394885.1:p.Ser1271Ter
NP_001394886.1:p.Ser1272Ter
NP_001394887.1:p.Ser1271Ter
NP_001394888.1:p.Ser1256Ter
NP_001394889.1:p.Ser1256Ter
NP_001394891.1:p.Ser1255Ter
NP_001394892.1:p.Ser1256Ter
NP_001394893.1:p.Ser1335Ter
NP_001394894.1:p.Ser1215Ter
NP_001394895.1:p.Ser1087Ter
NP_001394896.1:p.Ser1087Ter
NP_001394897.1:p.Ser515Ter
NP_001394898.1:p.Ser515Ter
NP_001394899.1:p.Ser280Ter
NP_001394900.1:p.Ser280Ter
NP_001394901.1:p.Ser279Ter
NP_001394902.1:p.Ser280Ter
NP_001394903.1:p.Ser280Ter
NP_001394904.1:p.Ser280Ter
NP_001394905.1:p.Ser280Ter
NP_001394906.1:p.Ser280Ter
NP_001394907.1:p.Ser280Ter
NP_001394908.1:p.Ser280Ter
NP_001394909.1:p.Ser280Ter
NP_001394910.1:p.Ser280Ter
NP_001394911.1:p.Ser280Ter
NP_001394912.1:p.Ser280Ter
NP_001394913.1:p.Ser279Ter
NP_001394914.1:p.Ser279Ter
NP_001394915.1:p.Ser279Ter
NP_001394919.1:p.Ser280Ter
NP_001394920.1:p.Ser279Ter
NP_001394921.1:p.Ser279Ter
NP_001394922.1:p.Ser280Ter
NP_001395321.1:p.Ser279Ter
NP_001395325.1:p.Ser279Ter
NP_001395326.1:p.Ser279Ter
NP_001395327.1:p.Ser279Ter
NP_001395328.1:p.Ser279Ter
NP_001395329.1:p.Ser279Ter
NP_001395330.1:p.Ser279Ter
NP_001395331.1:p.Ser279Ter
NP_001395332.1:p.Ser280Ter
NP_001395333.1:p.Ser280Ter
NP_001395335.1:p.Ser278Ter
NP_001395336.1:p.Ser279Ter
NP_001395337.1:p.Ser277Ter
NP_001395338.1:p.Ser254Ter
NP_001395339.1:p.Ser233Ter
NP_001395340.1:p.Ser254Ter
NP_001395341.1:p.Ser254Ter
NP_001395342.1:p.Ser253Ter
NP_001395343.1:p.Ser254Ter
NP_001395344.1:p.Ser254Ter
NP_001395345.1:p.Ser253Ter
NP_001395347.1:p.Ser241Ter
NP_001395348.1:p.Ser241Ter
NP_001395349.1:p.Ser241Ter
NP_001395350.1:p.Ser240Ter
NP_001395351.1:p.Ser241Ter
NP_001395352.1:p.Ser241Ter
NP_001395353.1:p.Ser240Ter
NP_001395354.1:p.Ser239Ter
NP_001395355.1:p.Ser239Ter
NP_001395356.1:p.Ser239Ter
NP_001395357.1:p.Ser239Ter
NP_001395358.1:p.Ser239Ter
NP_001395359.1:p.Ser239Ter
NP_001395360.1:p.Ser240Ter
NP_001395361.1:p.Ser238Ter
NP_001395362.1:p.Ser238Ter
NP_001395363.1:p.Ser238Ter
NP_001395364.1:p.Ser238Ter
NP_001395365.1:p.Ser239Ter
NP_001395366.1:p.Ser239Ter
NP_001395367.1:p.Ser239Ter
NP_001395368.1:p.Ser239Ter
NP_001395369.1:p.Ser239Ter
NP_001395370.1:p.Ser239Ter
NP_001395371.1:p.Ser239Ter
NP_001395372.1:p.Ser239Ter
NP_001395373.1:p.Ser239Ter
NP_001395374.1:p.Ser238Ter
NP_001395375.1:p.Ser238Ter
NP_001395376.1:p.Ser238Ter
NP_001395377.1:p.Ser238Ter
NP_001395379.1:p.Ser238Ter
NP_001395380.1:p.Ser235Ter
NP_001395381.1:p.Ser233Ter
NP_001395382.1:p.Ser233Ter
NP_001395383.1:p.Ser233Ter
NP_001395384.1:p.Ser233Ter
NP_001395385.1:p.Ser233Ter
NP_001395386.1:p.Ser233Ter
NP_001395387.1:p.Ser233Ter
NP_001395388.1:p.Ser233Ter
NP_001395389.1:p.Ser233Ter
NP_001395390.1:p.Ser233Ter
NP_001395391.1:p.Ser232Ter
NP_001395392.1:p.Ser232Ter
NP_001395393.1:p.Ser232Ter
NP_001395394.1:p.Ser232Ter
NP_001395395.1:p.Ser233Ter
NP_001395396.1:p.Ser233Ter
NP_001395397.1:p.Ser232Ter
NP_001395398.1:p.Ser233Ter
NP_001395399.1:p.Ser232Ter
NP_001395401.1:p.Ser280Ter
NP_001395402.1:p.Ser279Ter
NP_001395403.1:p.Ser213Ter
NP_001395404.1:p.Ser212Ter
NP_001395405.1:p.Ser213Ter
NP_001395407.1:p.Ser210Ter
NP_001395408.1:p.Ser210Ter
NP_001395409.1:p.Ser210Ter
NP_001395410.1:p.Ser210Ter
NP_001395411.1:p.Ser210Ter
NP_001395412.1:p.Ser210Ter
NP_001395413.1:p.Ser210Ter
NP_001395414.1:p.Ser210Ter
NP_001395418.1:p.Ser210Ter
NP_001395419.1:p.Ser209Ter
NP_001395420.1:p.Ser209Ter
NP_001395421.1:p.Ser210Ter
NP_001395422.1:p.Ser209Ter
NP_001395423.1:p.Ser200Ter
NP_001395424.1:p.Ser199Ter
NP_001395425.1:p.Ser192Ter
NP_001395426.1:p.Ser192Ter
NP_001395427.1:p.Ser192Ter
NP_001395428.1:p.Ser192Ter
NP_001395429.1:p.Ser192Ter
NP_001395430.1:p.Ser192Ter
NP_001395431.1:p.Ser169Ter
NP_001395432.1:p.Ser191Ter
NP_001395433.1:p.Ser191Ter
NP_001395434.1:p.Ser191Ter
NP_001395435.1:p.Ser171Ter
NP_001395436.1:p.Ser171Ter
NP_001395437.1:p.Ser168Ter
NP_001395438.1:p.Ser168Ter
NP_001395439.1:p.Ser153Ter
NP_001395440.1:p.Ser152Ter
NP_001395441.1:p.Ser112Ter
NP_001395442.1:p.Ser210Ter
NP_001395443.1:p.Ser210Ter
NP_009225.1:p.Ser1383Ter
NP_009225.1:p.Ser1383Ter
NP_009228.2:p.Ser1336Ter
NP_009229.2:p.Ser280Ter
NP_009229.2:p.Ser280Ter
NP_009230.2:p.Ser280Ter
NP_009231.2:p.Ser1383Ter
NP_009235.2:p.Ser280Ter
LRG_292t1:c.4148C>G
LRG_292:g.127003C>G
LRG_292p1:p.Ser1383Ter
NC_000017.10:g.41242998G>C
NM_007294.3:c.4148C>G
NM_007298.3:c.839C>G
NR_027676.2:n.4325C>G
U14680.1:n.4267C>G

Protein change:

S1087*

Links:

dbSNP: rs80357071

NCBI 1000 Genomes Browser:

rs80357071

Molecular consequence:

NR_027676.2:n.4325C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4139C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4139C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4067C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4067C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4067C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4067C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4070C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4145C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3947C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3944C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3944C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3938C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3935C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3881C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3881C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3881C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3881C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3884C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3881C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4025C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4022C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3812C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3812C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3812C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3815C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3812C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3767C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3767C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3764C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3767C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4004C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3644C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3260C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3260C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1544C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1544C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.833C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.830C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.761C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.761C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.761C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.758C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.761C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.761C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.758C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.722C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.722C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.722C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.719C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.722C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.722C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.719C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.719C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.716C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.713C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.704C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.698C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.695C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.836C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.638C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.635C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.638C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.626C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.626C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.626C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.599C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.596C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.575C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.506C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.572C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.572C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.572C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.512C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.512C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.503C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.503C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.458C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.455C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.335C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.629C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4007C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.4148C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.839C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144996	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000300081	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325866	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV004212686	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 24, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	3	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Chinese	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144996.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	1	not provided	not provided	clinical testing	not provided
2	Chinese	1	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		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300081.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325866.4

#	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	unknown	not provided	not provided	not provided		not provided	not provided	3	not provided

From Baylor Genetics, SCV004212686.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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Relating variation to medicine