chr17:41243843 GTTTAC>G

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.3700_3704del

Proteinp.V1234fs

Functionframeshift del

Localizationexon

hg19chr17:41243843 GTTTAC>G

NM_007297.3c.3559_3563delp.V1187fs

NM_007300.3c.3700_3704delp.V1234fs

NM_007298.3c.788-799_788-795delGTAAA

NM_007299.3c.788-799_788-795delGTAAA

NR_027676.1n.3836_3840delGTAAA

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000238864.1Familial cancer of breastPathogenic

RCV000048287.7Hereditary breast and ovarian cancer syndromePathogenic

RCV000235915.3not providedPathogenic

RCV000031123.8Breast-ovarian cancer, familial 1Pathogenic

RCV000131816.5Hereditary cancer-predisposing syndromePathogenic

CD951619Breast cancerDM