chr17:41243512 CT>C

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.4035delA

Proteinp.E1345fs

Functionframeshift del

Localizationexon

hg19chr17:41243512 CT>C

NM_007298.3c.788-464delA

NM_007299.3c.788-464delA

NM_007297.3c.3894delAp.E1298fs

NM_007300.3c.4035delAp.E1345fs

NR_027676.1n.4171delA

MAX0.00050.00003586

AFR00

AMR00

ASJ00

EAS00

FIN00

NFE0.00050.00003586

SAS–0

RCV000130638.5Hereditary cancer-predisposing syndromePathogenic

RCV000048413.9Hereditary breast and ovarian cancer syndromePathogenic

RCV000239274.1Familial cancer of breastPathogenic

RCV000031141.10Breast-ovarian cancer, familial 1Pathogenic

RCV000074587.7not providedPathogenic

CD961844Breast cancerDM