chr17:41258504 A>C

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.181T>G

Proteinp.C61G

Functionmissense

Localizationexon

hg19chr17:41258504 A>C

NM_007297.3c.40T>Gp.C14G

NM_007298.3c.181T>Gp.C61G

NM_007299.3c.181T>Gp.C61G

NM_007300.3c.181T>Gp.C61G

NR_027676.1n.342T>G

MAX–0.00006277

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0.00004488

NFE–0.00006277

SAS–0

RCV000131902.5Hereditary cancer-predisposing syndromePathogenic

RCV000047597.13Hereditary breast and ovarian cancer syndromePathogenic

RCV000019229.12Breast-ovarian cancer, familial 1Pathogenic

RCV000506927.1not specifiedPathogenic

RCV000412714.1Neoplasm of the breastPathogenic

RCV000159935.7not providedPathogenic

RCV000415051.1Breast carcinomaPathogenic

RCV000239114.2Familial cancer of breastPathogenic

CM940172Breast cancerDM