chr17:41243788 TAGAC>T

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.3756_3759del

Proteinp.L1252fs

Functionframeshift del

Localizationexon

hg19chr17:41243788 TAGAC>T

NM_007297.3c.3615_3618delp.L1205fs

NM_007300.3c.3756_3759delp.L1252fs

NM_007298.3c.788-743_788-740delGTCT

NM_007299.3c.788-743_788-740delGTCT

NR_027676.1n.3892_3895delGTCT

MAX–0.00002691

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00002691

SAS–0

RCV000131810.5Hereditary cancer-predisposing syndromePathogenic

RCV000239051.2Familial cancer of breastPathogenic

RCV000167859.9Hereditary breast and ovarian cancer syndromePathogenic

RCV000019242.17Breast-ovarian cancer, familial 1Pathogenic

RCV000048314.6not providedPathogenic

CD941618Breast cancerDM