chr17:41223242 G>C

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.4689C>G

Proteinp.Y1563X

Functionstop gain

Localizationexon

hg19chr17:41223242 G>C

NM_007297.3c.4548C>Gp.Y1516X

NM_007298.3c.1377C>Gp.Y459X

NM_007299.3c.1377C>Gp.Y459X

NM_007300.3c.4752C>Gp.Y1584X

NR_027676.1n.4825C>G

MAX–0.00001801

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00001801

SAS–0

RCV000031188.10Breast-ovarian cancer, familial 1Pathogenic

RCV000048631.11Hereditary breast and ovarian cancer syndromePathogenic

RCV000159994.4not providedPathogenic

RCV000131835.5Hereditary cancer-predisposing syndromePathogenic

RCV000464295.1Familial cancer of breastPathogenic

CM960185Breast cancerDM