chr17:41244056 ACTAGTATCTTC>A

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.3481_3491del

Белокp.E1161fs

Функцияframeshift del

Локализацияexon

hg19chr17:41244056 ACTAGTATCTTC>A

NM_007297.3c.3340_3350delp.E1114fs

NM_007300.3c.3481_3491delp.E1161fs

NM_007298.3c.788-1018_788-1008delGAAGATACTAG

NM_007299.3c.788-1018_788-1008delGAAGATACTAG

NR_027676.1n.3617_3627delGAAGATACTAG

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000131815.5Hereditary cancer-predisposing syndromePathogenic

RCV000048211.9Hereditary breast and ovarian cancer syndromePathogenic

RCV000159917.5not providedPathogenic

RCV000019254.17Breast-ovarian cancer, familial 1Pathogenic

CD951618Breast cancerDM