chr17:41276044 ACT>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.68_69del

Proteinp.E23fs

Functionframeshift del

Localizationexon

hg19chr17:41276044 ACT>A

NM_007298.3c.68_69delp.E23fs

NM_007299.3c.68_69delp.E23fs

NM_007300.3c.68_69delp.E23fs

NM_007297.3c.-20_-19delAG

NR_027676.1n.229_230delAG

MAX00.0001

AFR00

AMR00.00002978

ASJ0.00330.0038

EAS00

FIN00

NFE00.00009884

SAS–0.0001

RCV000056295.6Familial cancer of breastPathogenic

RCV000019230.19Breast-ovarian cancer, familial 1Pathogenic

RCV000034761.14Hereditary breast and ovarian cancer syndromePathogenic

RCV000019231.3Pancreatic cancer 4Risk factor

RCV000213650.5not providedPathogenic

RCV000507310.1not specifiedPathogenic

RCV000131394.5Hereditary cancer-predisposing syndromePathogenic

CD951600Breast cancerDM