chr17:41244404 AC>A

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.3143delG

Белокp.G1048fs

Функцияframeshift del

Локализацияexon

hg19chr17:41244404 AC>A

NM_007297.3c.3002delGp.G1001fs

NM_007300.3c.3143delGp.G1048fs

NM_007298.3c.788-1356delG

NM_007299.3c.788-1356delG

NR_027676.1n.3279delG

MAX–0.000008987

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.000008987

SAS–0

RCV000257681.2Breast-ovarian cancer, familial 1Pathogenic

RCV000509795.1Hereditary cancer-predisposing syndromePathogenic

CD129127Breast cancerDM