chr17:41246037 CG>C

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.1510delC

Белокp.R504fs

Функцияframeshift del

Локализацияexon

hg19chr17:41246037 CG>C

NM_007297.3c.1369delCp.R457fs

NM_007300.3c.1510delCp.R504fs

NM_007298.3c.787+723delC

NM_007299.3c.787+723delC

NR_027676.1n.1646delC

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000030999.6Breast-ovarian cancer, familial 1Pathogenic

RCV000496881.3Hereditary breast and ovarian cancer syndromePathogenic

RCV000130024.3Hereditary cancer-predisposing syndromePathogenic

CD082060Breast and/or ovarian cancerDM