chr17:41243941 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.3607C>T

Proteinp.R1203X

Functionstop gain

Localizationexon

hg19chr17:41243941 G>A

NM_007297.3c.3466C>Tp.R1156X

NM_007300.3c.3607C>Tp.R1203X

NM_007298.3c.788-892C>T

NM_007299.3c.788-892C>T

NR_027676.1n.3743C>T

MAX–0.00005816

AFR–0

AMR–0

ASJ–0

EAS–0.00005816

FIN–0

NFE–0.00001795

SAS–0

RCV000239343.1Familial cancer of breastPathogenic

RCV000131818.4Hereditary cancer-predisposing syndromePathogenic

RCV000159978.4not providedPathogenic

RCV000148389.1Neoplasm of the breastPathogenic

RCV000019240.17Breast-ovarian cancer, familial 1Pathogenic

RCV000048251.10Hereditary breast and ovarian cancer syndromePathogenic

RCV000677815.1Ovarian cancerPathogenic

CM940176Breast cancerDM