chr13:32914137 C>A

Основные

ГенBRCA2

ТранскриптNM_000059.3

кДНКc.5645C>A

Белокp.S1882X

Функцияstop gain

Локализацияexon

hg19chr13:32914137 C>A

MAX–0.00005813

AFR–0

AMR–0

ASJ–0

EAS–0.00005813

FIN–0

NFE–0.00001803

SAS–0

RCV000585709.1Familial cancer of breastPathogenic

RCV000167830.6Hereditary breast and ovarian cancer syndromePathogenic

RCV000240722.1Neoplasm of the breastPathogenic

RCV000131114.5Hereditary cancer-predisposing syndromePathogenic

RCV000044705.7not providedPathogenic

RCV000031565.10Breast-ovarian cancer, familial 2Pathogenic

CM980241Breast cancerDM