U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4241T>C (p.Leu1414Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000568318.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.4241T>C (p.Leu1414Pro)]

NM_007294.4(BRCA1):c.4241T>C (p.Leu1414Pro)

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.4241T>C (p.Leu1414Pro)
HGVS:
  • NC_000017.11:g.43082520A>G
  • NG_005905.2:g.135464T>C
  • NM_001407571.1:c.4028T>C
  • NM_001407581.1:c.4241T>C
  • NM_001407582.1:c.4241T>C
  • NM_001407583.1:c.4241T>C
  • NM_001407585.1:c.4241T>C
  • NM_001407587.1:c.4238T>C
  • NM_001407590.1:c.4238T>C
  • NM_001407591.1:c.4238T>C
  • NM_001407593.1:c.4241T>C
  • NM_001407594.1:c.4241T>C
  • NM_001407596.1:c.4241T>C
  • NM_001407597.1:c.4241T>C
  • NM_001407598.1:c.4241T>C
  • NM_001407602.1:c.4241T>C
  • NM_001407603.1:c.4241T>C
  • NM_001407605.1:c.4241T>C
  • NM_001407610.1:c.4238T>C
  • NM_001407611.1:c.4238T>C
  • NM_001407612.1:c.4238T>C
  • NM_001407613.1:c.4238T>C
  • NM_001407614.1:c.4238T>C
  • NM_001407615.1:c.4238T>C
  • NM_001407616.1:c.4241T>C
  • NM_001407617.1:c.4241T>C
  • NM_001407618.1:c.4241T>C
  • NM_001407619.1:c.4241T>C
  • NM_001407620.1:c.4241T>C
  • NM_001407621.1:c.4241T>C
  • NM_001407622.1:c.4241T>C
  • NM_001407623.1:c.4241T>C
  • NM_001407624.1:c.4238T>C
  • NM_001407625.1:c.4238T>C
  • NM_001407626.1:c.4238T>C
  • NM_001407627.1:c.4235T>C
  • NM_001407628.1:c.4235T>C
  • NM_001407629.1:c.4235T>C
  • NM_001407630.1:c.4235T>C
  • NM_001407631.1:c.4235T>C
  • NM_001407632.1:c.4235T>C
  • NM_001407633.1:c.4238T>C
  • NM_001407634.1:c.4238T>C
  • NM_001407635.1:c.4238T>C
  • NM_001407636.1:c.4238T>C
  • NM_001407637.1:c.4238T>C
  • NM_001407638.1:c.4238T>C
  • NM_001407639.1:c.4238T>C
  • NM_001407640.1:c.4238T>C
  • NM_001407641.1:c.4238T>C
  • NM_001407642.1:c.4238T>C
  • NM_001407644.1:c.4235T>C
  • NM_001407645.1:c.4235T>C
  • NM_001407646.1:c.4229T>C
  • NM_001407647.1:c.4229T>C
  • NM_001407648.1:c.4118T>C
  • NM_001407649.1:c.4115T>C
  • NM_001407652.1:c.4241T>C
  • NM_001407653.1:c.4163T>C
  • NM_001407654.1:c.4163T>C
  • NM_001407655.1:c.4163T>C
  • NM_001407656.1:c.4160T>C
  • NM_001407657.1:c.4163T>C
  • NM_001407658.1:c.4163T>C
  • NM_001407659.1:c.4157T>C
  • NM_001407660.1:c.4157T>C
  • NM_001407661.1:c.4160T>C
  • NM_001407662.1:c.4160T>C
  • NM_001407663.1:c.4160T>C
  • NM_001407664.1:c.4118T>C
  • NM_001407665.1:c.4118T>C
  • NM_001407666.1:c.4118T>C
  • NM_001407667.1:c.4118T>C
  • NM_001407668.1:c.4118T>C
  • NM_001407669.1:c.4118T>C
  • NM_001407670.1:c.4115T>C
  • NM_001407671.1:c.4115T>C
  • NM_001407672.1:c.4115T>C
  • NM_001407673.1:c.4115T>C
  • NM_001407674.1:c.4115T>C
  • NM_001407675.1:c.4115T>C
  • NM_001407676.1:c.4115T>C
  • NM_001407677.1:c.4118T>C
  • NM_001407678.1:c.4118T>C
  • NM_001407679.1:c.4118T>C
  • NM_001407680.1:c.4118T>C
  • NM_001407681.1:c.4115T>C
  • NM_001407682.1:c.4115T>C
  • NM_001407683.1:c.4115T>C
  • NM_001407684.1:c.4241T>C
  • NM_001407685.1:c.4112T>C
  • NM_001407686.1:c.4112T>C
  • NM_001407687.1:c.4112T>C
  • NM_001407688.1:c.4115T>C
  • NM_001407689.1:c.4115T>C
  • NM_001407690.1:c.4112T>C
  • NM_001407691.1:c.4112T>C
  • NM_001407692.1:c.4100T>C
  • NM_001407694.1:c.4100T>C
  • NM_001407695.1:c.4100T>C
  • NM_001407696.1:c.4100T>C
  • NM_001407697.1:c.4100T>C
  • NM_001407698.1:c.4100T>C
  • NM_001407724.1:c.4100T>C
  • NM_001407725.1:c.4100T>C
  • NM_001407726.1:c.4100T>C
  • NM_001407727.1:c.4100T>C
  • NM_001407728.1:c.4100T>C
  • NM_001407729.1:c.4100T>C
  • NM_001407730.1:c.4100T>C
  • NM_001407731.1:c.4100T>C
  • NM_001407732.1:c.4100T>C
  • NM_001407733.1:c.4100T>C
  • NM_001407734.1:c.4100T>C
  • NM_001407735.1:c.4100T>C
  • NM_001407736.1:c.4100T>C
  • NM_001407737.1:c.4100T>C
  • NM_001407738.1:c.4100T>C
  • NM_001407739.1:c.4100T>C
  • NM_001407740.1:c.4097T>C
  • NM_001407741.1:c.4097T>C
  • NM_001407742.1:c.4097T>C
  • NM_001407743.1:c.4097T>C
  • NM_001407744.1:c.4097T>C
  • NM_001407745.1:c.4097T>C
  • NM_001407746.1:c.4097T>C
  • NM_001407747.1:c.4097T>C
  • NM_001407748.1:c.4097T>C
  • NM_001407749.1:c.4097T>C
  • NM_001407750.1:c.4097T>C
  • NM_001407751.1:c.4097T>C
  • NM_001407752.1:c.4097T>C
  • NM_001407838.1:c.4097T>C
  • NM_001407839.1:c.4097T>C
  • NM_001407841.1:c.4097T>C
  • NM_001407842.1:c.4097T>C
  • NM_001407843.1:c.4097T>C
  • NM_001407844.1:c.4097T>C
  • NM_001407845.1:c.4097T>C
  • NM_001407846.1:c.4097T>C
  • NM_001407847.1:c.4094T>C
  • NM_001407848.1:c.4094T>C
  • NM_001407849.1:c.4094T>C
  • NM_001407850.1:c.4097T>C
  • NM_001407851.1:c.4097T>C
  • NM_001407852.1:c.4097T>C
  • NM_001407853.1:c.4028T>C
  • NM_001407854.1:c.4241T>C
  • NM_001407858.1:c.4241T>C
  • NM_001407859.1:c.4241T>C
  • NM_001407860.1:c.4238T>C
  • NM_001407861.1:c.4238T>C
  • NM_001407862.1:c.4040T>C
  • NM_001407863.1:c.4118T>C
  • NM_001407874.1:c.4037T>C
  • NM_001407875.1:c.4037T>C
  • NM_001407879.1:c.4031T>C
  • NM_001407881.1:c.4031T>C
  • NM_001407882.1:c.4031T>C
  • NM_001407884.1:c.4031T>C
  • NM_001407885.1:c.4031T>C
  • NM_001407886.1:c.4031T>C
  • NM_001407887.1:c.4031T>C
  • NM_001407889.1:c.4031T>C
  • NM_001407894.1:c.4028T>C
  • NM_001407895.1:c.4028T>C
  • NM_001407896.1:c.4028T>C
  • NM_001407897.1:c.4028T>C
  • NM_001407898.1:c.4028T>C
  • NM_001407899.1:c.4028T>C
  • NM_001407900.1:c.4031T>C
  • NM_001407902.1:c.4031T>C
  • NM_001407904.1:c.4031T>C
  • NM_001407906.1:c.4031T>C
  • NM_001407907.1:c.4028T>C
  • NM_001407908.1:c.4028T>C
  • NM_001407909.1:c.4028T>C
  • NM_001407910.1:c.4028T>C
  • NM_001407915.1:c.4025T>C
  • NM_001407916.1:c.4028T>C
  • NM_001407917.1:c.4028T>C
  • NM_001407918.1:c.4028T>C
  • NM_001407919.1:c.4118T>C
  • NM_001407920.1:c.3977T>C
  • NM_001407921.1:c.3977T>C
  • NM_001407922.1:c.3977T>C
  • NM_001407923.1:c.3977T>C
  • NM_001407924.1:c.3977T>C
  • NM_001407925.1:c.3977T>C
  • NM_001407926.1:c.3977T>C
  • NM_001407927.1:c.3977T>C
  • NM_001407928.1:c.3977T>C
  • NM_001407929.1:c.3977T>C
  • NM_001407930.1:c.3974T>C
  • NM_001407931.1:c.3974T>C
  • NM_001407932.1:c.3974T>C
  • NM_001407933.1:c.3974T>C
  • NM_001407934.1:c.3971T>C
  • NM_001407935.1:c.3974T>C
  • NM_001407936.1:c.3974T>C
  • NM_001407937.1:c.4118T>C
  • NM_001407938.1:c.4118T>C
  • NM_001407939.1:c.4118T>C
  • NM_001407940.1:c.4115T>C
  • NM_001407941.1:c.4115T>C
  • NM_001407942.1:c.4100T>C
  • NM_001407943.1:c.4097T>C
  • NM_001407944.1:c.4100T>C
  • NM_001407945.1:c.4100T>C
  • NM_001407946.1:c.3908T>C
  • NM_001407947.1:c.3908T>C
  • NM_001407948.1:c.3908T>C
  • NM_001407949.1:c.3908T>C
  • NM_001407950.1:c.3908T>C
  • NM_001407951.1:c.3908T>C
  • NM_001407952.1:c.3905T>C
  • NM_001407953.1:c.3905T>C
  • NM_001407954.1:c.3905T>C
  • NM_001407955.1:c.3905T>C
  • NM_001407956.1:c.3902T>C
  • NM_001407957.1:c.3905T>C
  • NM_001407958.1:c.3905T>C
  • NM_001407959.1:c.3860T>C
  • NM_001407960.1:c.3860T>C
  • NM_001407962.1:c.3857T>C
  • NM_001407963.1:c.3857T>C
  • NM_001407964.1:c.4097T>C
  • NM_001407965.1:c.3734T>C
  • NM_001407966.1:c.3353T>C
  • NM_001407967.1:c.3353T>C
  • NM_001407968.1:c.1637T>C
  • NM_001407969.1:c.1634T>C
  • NM_001407970.1:c.932T>C
  • NM_001407971.1:c.932T>C
  • NM_001407972.1:c.929T>C
  • NM_001407973.1:c.932T>C
  • NM_001407974.1:c.932T>C
  • NM_001407975.1:c.932T>C
  • NM_001407976.1:c.932T>C
  • NM_001407977.1:c.932T>C
  • NM_001407978.1:c.932T>C
  • NM_001407979.1:c.929T>C
  • NM_001407980.1:c.929T>C
  • NM_001407981.1:c.929T>C
  • NM_001407982.1:c.929T>C
  • NM_001407983.1:c.929T>C
  • NM_001407984.1:c.929T>C
  • NM_001407985.1:c.929T>C
  • NM_001407986.1:c.929T>C
  • NM_001407990.1:c.929T>C
  • NM_001407991.1:c.929T>C
  • NM_001407992.1:c.929T>C
  • NM_001407993.1:c.932T>C
  • NM_001408392.1:c.929T>C
  • NM_001408396.1:c.929T>C
  • NM_001408397.1:c.929T>C
  • NM_001408398.1:c.929T>C
  • NM_001408399.1:c.929T>C
  • NM_001408400.1:c.926T>C
  • NM_001408401.1:c.926T>C
  • NM_001408402.1:c.926T>C
  • NM_001408403.1:c.929T>C
  • NM_001408404.1:c.929T>C
  • NM_001408406.1:c.923T>C
  • NM_001408407.1:c.926T>C
  • NM_001408408.1:c.923T>C
  • NM_001408409.1:c.854T>C
  • NM_001408410.1:c.791T>C
  • NM_001408411.1:c.854T>C
  • NM_001408412.1:c.854T>C
  • NM_001408413.1:c.851T>C
  • NM_001408414.1:c.854T>C
  • NM_001408415.1:c.854T>C
  • NM_001408416.1:c.851T>C
  • NM_001408418.1:c.815T>C
  • NM_001408419.1:c.815T>C
  • NM_001408420.1:c.815T>C
  • NM_001408421.1:c.812T>C
  • NM_001408422.1:c.815T>C
  • NM_001408423.1:c.815T>C
  • NM_001408424.1:c.812T>C
  • NM_001408425.1:c.809T>C
  • NM_001408426.1:c.809T>C
  • NM_001408427.1:c.809T>C
  • NM_001408428.1:c.809T>C
  • NM_001408429.1:c.809T>C
  • NM_001408430.1:c.809T>C
  • NM_001408431.1:c.812T>C
  • NM_001408432.1:c.806T>C
  • NM_001408433.1:c.806T>C
  • NM_001408434.1:c.806T>C
  • NM_001408435.1:c.806T>C
  • NM_001408436.1:c.809T>C
  • NM_001408437.1:c.809T>C
  • NM_001408438.1:c.809T>C
  • NM_001408439.1:c.809T>C
  • NM_001408440.1:c.809T>C
  • NM_001408441.1:c.806T>C
  • NM_001408442.1:c.806T>C
  • NM_001408443.1:c.806T>C
  • NM_001408444.1:c.806T>C
  • NM_001408445.1:c.806T>C
  • NM_001408446.1:c.806T>C
  • NM_001408447.1:c.806T>C
  • NM_001408448.1:c.806T>C
  • NM_001408450.1:c.806T>C
  • NM_001408451.1:c.797T>C
  • NM_001408452.1:c.791T>C
  • NM_001408453.1:c.791T>C
  • NM_001408454.1:c.791T>C
  • NM_001408455.1:c.791T>C
  • NM_001408456.1:c.791T>C
  • NM_001408457.1:c.791T>C
  • NM_001408458.1:c.791T>C
  • NM_001408459.1:c.791T>C
  • NM_001408460.1:c.791T>C
  • NM_001408461.1:c.791T>C
  • NM_001408462.1:c.788T>C
  • NM_001408463.1:c.788T>C
  • NM_001408464.1:c.788T>C
  • NM_001408465.1:c.788T>C
  • NM_001408466.1:c.788T>C
  • NM_001408467.1:c.788T>C
  • NM_001408468.1:c.788T>C
  • NM_001408469.1:c.788T>C
  • NM_001408470.1:c.785T>C
  • NM_001408472.1:c.929T>C
  • NM_001408473.1:c.929T>C
  • NM_001408474.1:c.731T>C
  • NM_001408475.1:c.728T>C
  • NM_001408476.1:c.731T>C
  • NM_001408478.1:c.722T>C
  • NM_001408479.1:c.722T>C
  • NM_001408480.1:c.722T>C
  • NM_001408481.1:c.722T>C
  • NM_001408482.1:c.722T>C
  • NM_001408483.1:c.722T>C
  • NM_001408484.1:c.722T>C
  • NM_001408485.1:c.722T>C
  • NM_001408489.1:c.719T>C
  • NM_001408490.1:c.719T>C
  • NM_001408491.1:c.719T>C
  • NM_001408492.1:c.719T>C
  • NM_001408493.1:c.719T>C
  • NM_001408494.1:c.692T>C
  • NM_001408495.1:c.689T>C
  • NM_001408496.1:c.668T>C
  • NM_001408497.1:c.668T>C
  • NM_001408498.1:c.668T>C
  • NM_001408499.1:c.668T>C
  • NM_001408500.1:c.668T>C
  • NM_001408501.1:c.668T>C
  • NM_001408502.1:c.599T>C
  • NM_001408503.1:c.665T>C
  • NM_001408504.1:c.665T>C
  • NM_001408505.1:c.665T>C
  • NM_001408506.1:c.605T>C
  • NM_001408507.1:c.602T>C
  • NM_001408508.1:c.593T>C
  • NM_001408509.1:c.593T>C
  • NM_001408510.1:c.551T>C
  • NM_001408511.1:c.548T>C
  • NM_001408512.1:c.428T>C
  • NM_001408513.1:c.719T>C
  • NM_001408514.1:c.722T>C
  • NM_007294.4:c.4241T>CMANE SELECT
  • NM_007297.4:c.4100T>C
  • NM_007298.4:c.932T>C
  • NM_007299.4:c.932T>C
  • NM_007300.4:c.4241T>C
  • NM_007304.2:c.932T>C
  • NP_001394500.1:p.Leu1343Pro
  • NP_001394510.1:p.Leu1414Pro
  • NP_001394511.1:p.Leu1414Pro
  • NP_001394512.1:p.Leu1414Pro
  • NP_001394514.1:p.Leu1414Pro
  • NP_001394516.1:p.Leu1413Pro
  • NP_001394519.1:p.Leu1413Pro
  • NP_001394520.1:p.Leu1413Pro
  • NP_001394522.1:p.Leu1414Pro
  • NP_001394523.1:p.Leu1414Pro
  • NP_001394525.1:p.Leu1414Pro
  • NP_001394526.1:p.Leu1414Pro
  • NP_001394527.1:p.Leu1414Pro
  • NP_001394531.1:p.Leu1414Pro
  • NP_001394532.1:p.Leu1414Pro
  • NP_001394534.1:p.Leu1414Pro
  • NP_001394539.1:p.Leu1413Pro
  • NP_001394540.1:p.Leu1413Pro
  • NP_001394541.1:p.Leu1413Pro
  • NP_001394542.1:p.Leu1413Pro
  • NP_001394543.1:p.Leu1413Pro
  • NP_001394544.1:p.Leu1413Pro
  • NP_001394545.1:p.Leu1414Pro
  • NP_001394546.1:p.Leu1414Pro
  • NP_001394547.1:p.Leu1414Pro
  • NP_001394548.1:p.Leu1414Pro
  • NP_001394549.1:p.Leu1414Pro
  • NP_001394550.1:p.Leu1414Pro
  • NP_001394551.1:p.Leu1414Pro
  • NP_001394552.1:p.Leu1414Pro
  • NP_001394553.1:p.Leu1413Pro
  • NP_001394554.1:p.Leu1413Pro
  • NP_001394555.1:p.Leu1413Pro
  • NP_001394556.1:p.Leu1412Pro
  • NP_001394557.1:p.Leu1412Pro
  • NP_001394558.1:p.Leu1412Pro
  • NP_001394559.1:p.Leu1412Pro
  • NP_001394560.1:p.Leu1412Pro
  • NP_001394561.1:p.Leu1412Pro
  • NP_001394562.1:p.Leu1413Pro
  • NP_001394563.1:p.Leu1413Pro
  • NP_001394564.1:p.Leu1413Pro
  • NP_001394565.1:p.Leu1413Pro
  • NP_001394566.1:p.Leu1413Pro
  • NP_001394567.1:p.Leu1413Pro
  • NP_001394568.1:p.Leu1413Pro
  • NP_001394569.1:p.Leu1413Pro
  • NP_001394570.1:p.Leu1413Pro
  • NP_001394571.1:p.Leu1413Pro
  • NP_001394573.1:p.Leu1412Pro
  • NP_001394574.1:p.Leu1412Pro
  • NP_001394575.1:p.Leu1410Pro
  • NP_001394576.1:p.Leu1410Pro
  • NP_001394577.1:p.Leu1373Pro
  • NP_001394578.1:p.Leu1372Pro
  • NP_001394581.1:p.Leu1414Pro
  • NP_001394582.1:p.Leu1388Pro
  • NP_001394583.1:p.Leu1388Pro
  • NP_001394584.1:p.Leu1388Pro
  • NP_001394585.1:p.Leu1387Pro
  • NP_001394586.1:p.Leu1388Pro
  • NP_001394587.1:p.Leu1388Pro
  • NP_001394588.1:p.Leu1386Pro
  • NP_001394589.1:p.Leu1386Pro
  • NP_001394590.1:p.Leu1387Pro
  • NP_001394591.1:p.Leu1387Pro
  • NP_001394592.1:p.Leu1387Pro
  • NP_001394593.1:p.Leu1373Pro
  • NP_001394594.1:p.Leu1373Pro
  • NP_001394595.1:p.Leu1373Pro
  • NP_001394596.1:p.Leu1373Pro
  • NP_001394597.1:p.Leu1373Pro
  • NP_001394598.1:p.Leu1373Pro
  • NP_001394599.1:p.Leu1372Pro
  • NP_001394600.1:p.Leu1372Pro
  • NP_001394601.1:p.Leu1372Pro
  • NP_001394602.1:p.Leu1372Pro
  • NP_001394603.1:p.Leu1372Pro
  • NP_001394604.1:p.Leu1372Pro
  • NP_001394605.1:p.Leu1372Pro
  • NP_001394606.1:p.Leu1373Pro
  • NP_001394607.1:p.Leu1373Pro
  • NP_001394608.1:p.Leu1373Pro
  • NP_001394609.1:p.Leu1373Pro
  • NP_001394610.1:p.Leu1372Pro
  • NP_001394611.1:p.Leu1372Pro
  • NP_001394612.1:p.Leu1372Pro
  • NP_001394613.1:p.Leu1414Pro
  • NP_001394614.1:p.Leu1371Pro
  • NP_001394615.1:p.Leu1371Pro
  • NP_001394616.1:p.Leu1371Pro
  • NP_001394617.1:p.Leu1372Pro
  • NP_001394618.1:p.Leu1372Pro
  • NP_001394619.1:p.Leu1371Pro
  • NP_001394620.1:p.Leu1371Pro
  • NP_001394621.1:p.Leu1367Pro
  • NP_001394623.1:p.Leu1367Pro
  • NP_001394624.1:p.Leu1367Pro
  • NP_001394625.1:p.Leu1367Pro
  • NP_001394626.1:p.Leu1367Pro
  • NP_001394627.1:p.Leu1367Pro
  • NP_001394653.1:p.Leu1367Pro
  • NP_001394654.1:p.Leu1367Pro
  • NP_001394655.1:p.Leu1367Pro
  • NP_001394656.1:p.Leu1367Pro
  • NP_001394657.1:p.Leu1367Pro
  • NP_001394658.1:p.Leu1367Pro
  • NP_001394659.1:p.Leu1367Pro
  • NP_001394660.1:p.Leu1367Pro
  • NP_001394661.1:p.Leu1367Pro
  • NP_001394662.1:p.Leu1367Pro
  • NP_001394663.1:p.Leu1367Pro
  • NP_001394664.1:p.Leu1367Pro
  • NP_001394665.1:p.Leu1367Pro
  • NP_001394666.1:p.Leu1367Pro
  • NP_001394667.1:p.Leu1367Pro
  • NP_001394668.1:p.Leu1367Pro
  • NP_001394669.1:p.Leu1366Pro
  • NP_001394670.1:p.Leu1366Pro
  • NP_001394671.1:p.Leu1366Pro
  • NP_001394672.1:p.Leu1366Pro
  • NP_001394673.1:p.Leu1366Pro
  • NP_001394674.1:p.Leu1366Pro
  • NP_001394675.1:p.Leu1366Pro
  • NP_001394676.1:p.Leu1366Pro
  • NP_001394677.1:p.Leu1366Pro
  • NP_001394678.1:p.Leu1366Pro
  • NP_001394679.1:p.Leu1366Pro
  • NP_001394680.1:p.Leu1366Pro
  • NP_001394681.1:p.Leu1366Pro
  • NP_001394767.1:p.Leu1366Pro
  • NP_001394768.1:p.Leu1366Pro
  • NP_001394770.1:p.Leu1366Pro
  • NP_001394771.1:p.Leu1366Pro
  • NP_001394772.1:p.Leu1366Pro
  • NP_001394773.1:p.Leu1366Pro
  • NP_001394774.1:p.Leu1366Pro
  • NP_001394775.1:p.Leu1366Pro
  • NP_001394776.1:p.Leu1365Pro
  • NP_001394777.1:p.Leu1365Pro
  • NP_001394778.1:p.Leu1365Pro
  • NP_001394779.1:p.Leu1366Pro
  • NP_001394780.1:p.Leu1366Pro
  • NP_001394781.1:p.Leu1366Pro
  • NP_001394782.1:p.Leu1343Pro
  • NP_001394783.1:p.Leu1414Pro
  • NP_001394787.1:p.Leu1414Pro
  • NP_001394788.1:p.Leu1414Pro
  • NP_001394789.1:p.Leu1413Pro
  • NP_001394790.1:p.Leu1413Pro
  • NP_001394791.1:p.Leu1347Pro
  • NP_001394792.1:p.Leu1373Pro
  • NP_001394803.1:p.Leu1346Pro
  • NP_001394804.1:p.Leu1346Pro
  • NP_001394808.1:p.Leu1344Pro
  • NP_001394810.1:p.Leu1344Pro
  • NP_001394811.1:p.Leu1344Pro
  • NP_001394813.1:p.Leu1344Pro
  • NP_001394814.1:p.Leu1344Pro
  • NP_001394815.1:p.Leu1344Pro
  • NP_001394816.1:p.Leu1344Pro
  • NP_001394818.1:p.Leu1344Pro
  • NP_001394823.1:p.Leu1343Pro
  • NP_001394824.1:p.Leu1343Pro
  • NP_001394825.1:p.Leu1343Pro
  • NP_001394826.1:p.Leu1343Pro
  • NP_001394827.1:p.Leu1343Pro
  • NP_001394828.1:p.Leu1343Pro
  • NP_001394829.1:p.Leu1344Pro
  • NP_001394831.1:p.Leu1344Pro
  • NP_001394833.1:p.Leu1344Pro
  • NP_001394835.1:p.Leu1344Pro
  • NP_001394836.1:p.Leu1343Pro
  • NP_001394837.1:p.Leu1343Pro
  • NP_001394838.1:p.Leu1343Pro
  • NP_001394839.1:p.Leu1343Pro
  • NP_001394844.1:p.Leu1342Pro
  • NP_001394845.1:p.Leu1343Pro
  • NP_001394846.1:p.Leu1343Pro
  • NP_001394847.1:p.Leu1343Pro
  • NP_001394848.1:p.Leu1373Pro
  • NP_001394849.1:p.Leu1326Pro
  • NP_001394850.1:p.Leu1326Pro
  • NP_001394851.1:p.Leu1326Pro
  • NP_001394852.1:p.Leu1326Pro
  • NP_001394853.1:p.Leu1326Pro
  • NP_001394854.1:p.Leu1326Pro
  • NP_001394855.1:p.Leu1326Pro
  • NP_001394856.1:p.Leu1326Pro
  • NP_001394857.1:p.Leu1326Pro
  • NP_001394858.1:p.Leu1326Pro
  • NP_001394859.1:p.Leu1325Pro
  • NP_001394860.1:p.Leu1325Pro
  • NP_001394861.1:p.Leu1325Pro
  • NP_001394862.1:p.Leu1325Pro
  • NP_001394863.1:p.Leu1324Pro
  • NP_001394864.1:p.Leu1325Pro
  • NP_001394865.1:p.Leu1325Pro
  • NP_001394866.1:p.Leu1373Pro
  • NP_001394867.1:p.Leu1373Pro
  • NP_001394868.1:p.Leu1373Pro
  • NP_001394869.1:p.Leu1372Pro
  • NP_001394870.1:p.Leu1372Pro
  • NP_001394871.1:p.Leu1367Pro
  • NP_001394872.1:p.Leu1366Pro
  • NP_001394873.1:p.Leu1367Pro
  • NP_001394874.1:p.Leu1367Pro
  • NP_001394875.1:p.Leu1303Pro
  • NP_001394876.1:p.Leu1303Pro
  • NP_001394877.1:p.Leu1303Pro
  • NP_001394878.1:p.Leu1303Pro
  • NP_001394879.1:p.Leu1303Pro
  • NP_001394880.1:p.Leu1303Pro
  • NP_001394881.1:p.Leu1302Pro
  • NP_001394882.1:p.Leu1302Pro
  • NP_001394883.1:p.Leu1302Pro
  • NP_001394884.1:p.Leu1302Pro
  • NP_001394885.1:p.Leu1301Pro
  • NP_001394886.1:p.Leu1302Pro
  • NP_001394887.1:p.Leu1302Pro
  • NP_001394888.1:p.Leu1287Pro
  • NP_001394889.1:p.Leu1287Pro
  • NP_001394891.1:p.Leu1286Pro
  • NP_001394892.1:p.Leu1286Pro
  • NP_001394893.1:p.Leu1366Pro
  • NP_001394894.1:p.Leu1245Pro
  • NP_001394895.1:p.Leu1118Pro
  • NP_001394896.1:p.Leu1118Pro
  • NP_001394897.1:p.Leu546Pro
  • NP_001394898.1:p.Leu545Pro
  • NP_001394899.1:p.Leu311Pro
  • NP_001394900.1:p.Leu311Pro
  • NP_001394901.1:p.Leu310Pro
  • NP_001394902.1:p.Leu311Pro
  • NP_001394903.1:p.Leu311Pro
  • NP_001394904.1:p.Leu311Pro
  • NP_001394905.1:p.Leu311Pro
  • NP_001394906.1:p.Leu311Pro
  • NP_001394907.1:p.Leu311Pro
  • NP_001394908.1:p.Leu310Pro
  • NP_001394909.1:p.Leu310Pro
  • NP_001394910.1:p.Leu310Pro
  • NP_001394911.1:p.Leu310Pro
  • NP_001394912.1:p.Leu310Pro
  • NP_001394913.1:p.Leu310Pro
  • NP_001394914.1:p.Leu310Pro
  • NP_001394915.1:p.Leu310Pro
  • NP_001394919.1:p.Leu310Pro
  • NP_001394920.1:p.Leu310Pro
  • NP_001394921.1:p.Leu310Pro
  • NP_001394922.1:p.Leu311Pro
  • NP_001395321.1:p.Leu310Pro
  • NP_001395325.1:p.Leu310Pro
  • NP_001395326.1:p.Leu310Pro
  • NP_001395327.1:p.Leu310Pro
  • NP_001395328.1:p.Leu310Pro
  • NP_001395329.1:p.Leu309Pro
  • NP_001395330.1:p.Leu309Pro
  • NP_001395331.1:p.Leu309Pro
  • NP_001395332.1:p.Leu310Pro
  • NP_001395333.1:p.Leu310Pro
  • NP_001395335.1:p.Leu308Pro
  • NP_001395336.1:p.Leu309Pro
  • NP_001395337.1:p.Leu308Pro
  • NP_001395338.1:p.Leu285Pro
  • NP_001395339.1:p.Leu264Pro
  • NP_001395340.1:p.Leu285Pro
  • NP_001395341.1:p.Leu285Pro
  • NP_001395342.1:p.Leu284Pro
  • NP_001395343.1:p.Leu285Pro
  • NP_001395344.1:p.Leu285Pro
  • NP_001395345.1:p.Leu284Pro
  • NP_001395347.1:p.Leu272Pro
  • NP_001395348.1:p.Leu272Pro
  • NP_001395349.1:p.Leu272Pro
  • NP_001395350.1:p.Leu271Pro
  • NP_001395351.1:p.Leu272Pro
  • NP_001395352.1:p.Leu272Pro
  • NP_001395353.1:p.Leu271Pro
  • NP_001395354.1:p.Leu270Pro
  • NP_001395355.1:p.Leu270Pro
  • NP_001395356.1:p.Leu270Pro
  • NP_001395357.1:p.Leu270Pro
  • NP_001395358.1:p.Leu270Pro
  • NP_001395359.1:p.Leu270Pro
  • NP_001395360.1:p.Leu271Pro
  • NP_001395361.1:p.Leu269Pro
  • NP_001395362.1:p.Leu269Pro
  • NP_001395363.1:p.Leu269Pro
  • NP_001395364.1:p.Leu269Pro
  • NP_001395365.1:p.Leu270Pro
  • NP_001395366.1:p.Leu270Pro
  • NP_001395367.1:p.Leu270Pro
  • NP_001395368.1:p.Leu270Pro
  • NP_001395369.1:p.Leu270Pro
  • NP_001395370.1:p.Leu269Pro
  • NP_001395371.1:p.Leu269Pro
  • NP_001395372.1:p.Leu269Pro
  • NP_001395373.1:p.Leu269Pro
  • NP_001395374.1:p.Leu269Pro
  • NP_001395375.1:p.Leu269Pro
  • NP_001395376.1:p.Leu269Pro
  • NP_001395377.1:p.Leu269Pro
  • NP_001395379.1:p.Leu269Pro
  • NP_001395380.1:p.Leu266Pro
  • NP_001395381.1:p.Leu264Pro
  • NP_001395382.1:p.Leu264Pro
  • NP_001395383.1:p.Leu264Pro
  • NP_001395384.1:p.Leu264Pro
  • NP_001395385.1:p.Leu264Pro
  • NP_001395386.1:p.Leu264Pro
  • NP_001395387.1:p.Leu264Pro
  • NP_001395388.1:p.Leu264Pro
  • NP_001395389.1:p.Leu264Pro
  • NP_001395390.1:p.Leu264Pro
  • NP_001395391.1:p.Leu263Pro
  • NP_001395392.1:p.Leu263Pro
  • NP_001395393.1:p.Leu263Pro
  • NP_001395394.1:p.Leu263Pro
  • NP_001395395.1:p.Leu263Pro
  • NP_001395396.1:p.Leu263Pro
  • NP_001395397.1:p.Leu263Pro
  • NP_001395398.1:p.Leu263Pro
  • NP_001395399.1:p.Leu262Pro
  • NP_001395401.1:p.Leu310Pro
  • NP_001395402.1:p.Leu310Pro
  • NP_001395403.1:p.Leu244Pro
  • NP_001395404.1:p.Leu243Pro
  • NP_001395405.1:p.Leu244Pro
  • NP_001395407.1:p.Leu241Pro
  • NP_001395408.1:p.Leu241Pro
  • NP_001395409.1:p.Leu241Pro
  • NP_001395410.1:p.Leu241Pro
  • NP_001395411.1:p.Leu241Pro
  • NP_001395412.1:p.Leu241Pro
  • NP_001395413.1:p.Leu241Pro
  • NP_001395414.1:p.Leu241Pro
  • NP_001395418.1:p.Leu240Pro
  • NP_001395419.1:p.Leu240Pro
  • NP_001395420.1:p.Leu240Pro
  • NP_001395421.1:p.Leu240Pro
  • NP_001395422.1:p.Leu240Pro
  • NP_001395423.1:p.Leu231Pro
  • NP_001395424.1:p.Leu230Pro
  • NP_001395425.1:p.Leu223Pro
  • NP_001395426.1:p.Leu223Pro
  • NP_001395427.1:p.Leu223Pro
  • NP_001395428.1:p.Leu223Pro
  • NP_001395429.1:p.Leu223Pro
  • NP_001395430.1:p.Leu223Pro
  • NP_001395431.1:p.Leu200Pro
  • NP_001395432.1:p.Leu222Pro
  • NP_001395433.1:p.Leu222Pro
  • NP_001395434.1:p.Leu222Pro
  • NP_001395435.1:p.Leu202Pro
  • NP_001395436.1:p.Leu201Pro
  • NP_001395437.1:p.Leu198Pro
  • NP_001395438.1:p.Leu198Pro
  • NP_001395439.1:p.Leu184Pro
  • NP_001395440.1:p.Leu183Pro
  • NP_001395441.1:p.Leu143Pro
  • NP_001395442.1:p.Leu240Pro
  • NP_001395443.1:p.Leu241Pro
  • NP_009225.1:p.Leu1414Pro
  • NP_009225.1:p.Leu1414Pro
  • NP_009228.2:p.Leu1367Pro
  • NP_009229.2:p.Leu311Pro
  • NP_009229.2:p.Leu311Pro
  • NP_009230.2:p.Leu311Pro
  • NP_009231.2:p.Leu1414Pro
  • NP_009235.2:p.Leu311Pro
  • LRG_292t1:c.4241T>C
  • LRG_292:g.135464T>C
  • LRG_292p1:p.Leu1414Pro
  • NC_000017.10:g.41234537A>G
  • NM_007294.3:c.4241T>C
  • NM_007298.3:c.932T>C
  • NR_027676.2:n.4418T>C
Protein change:
L1118P
Links:
dbSNP: rs878854951
NCBI 1000 Genomes Browser:
rs878854951
Molecular consequence:
  • NM_001407571.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4229T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4229T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4112T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4112T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4112T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4112T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4112T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4238T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4040T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4037T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4037T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4025T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4028T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3971T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3902T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3860T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3860T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3857T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3857T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3734T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3353T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3353T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1637T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1634T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.923T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.923T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.851T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.854T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.851T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.797T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.728T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.692T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.689T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.593T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.593T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.548T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.428T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.719T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4418T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000665817Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Feb 22, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction.

Hu YF, Li R.

Genes Dev. 2002 Jun 15;16(12):1509-17.

PubMed [citation]
PMID:
12080089
PMCID:
PMC186344

Details of each submission

From Ambry Genetics, SCV000665817.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.L1414P variant (also known as c.4241T>C), located in coding exon 11 of the BRCA1 gene, results from a T to C substitution at nucleotide position 4241. The leucine at codon 1414 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024