chr17:41276047 C>CT

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.66dupA

Proteinp.E23fs

Functionframeshift ins

Localizationexon

hg19chr17:41276047 C>CT

NM_007300.3c.66dupAp.E23fs

NM_007298.3c.66dupAp.E23fs

NM_007299.3c.66dupAp.E23fs

NM_007297.3c.-22dupA

NR_027676.1n.227dupA

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000031272.7Breast-ovarian cancer, familial 1Pathogenic

RCV000049087.7Hereditary breast and ovarian cancer syndromePathogenic

RCV000163427.3Hereditary cancer-predisposing syndromePathogenic

RCV000478017.2not providedPathogenic

RCV000240681.1Neoplasm of the breastPathogenic

CI962220Breast cancerDM