chr17:41209095 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.5251C>T

Proteinp.R1751X

Functionstop gain

Localizationexon

hg19chr17:41209095 G>A

NM_007297.3c.5110C>Tp.R1704X

NM_007298.3c.1939C>Tp.R647X

NM_007299.3c.1939C>Tp.R647X

NM_007300.3c.5314C>Tp.R1772X

NR_027676.1n.5387C>T

MAX0.00010.00005798

AFR0.00010

AMR00

ASJ00

EAS00.00005798

FIN00.00004484

NFE00.000008951

SAS–0

RCV000162884.4Hereditary cancer-predisposing syndromePathogenic

RCV000077611.9Breast-ovarian cancer, familial 1Pathogenic

RCV000414226.1Neoplasm of the breastPathogenic

RCV000048882.9Hereditary breast and ovarian cancer syndromePathogenic

RCV000074600.7not providedPathogenic

CM970175Breast cancerDM