Войти
РусскийРусскийEnglish
ВариантыСтатистикаМетодыРекомендацииКонтактыО проекте
ГлавнаяВарианты

chr13:32954022 C>CA

Основные

ГенBRCA2
ТранскриптNM_000059.3
кДНКc.9090dupA
Белокp.T3030fs
Функцияframeshift ins
Локализацияexon
hg19chr13:32954022 C>CA
dbSNPrs397507419

Частота в gnomAD

GenomeExome
MAX–0.0000668
AFR–0.0000668
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00002766
SAS–0

ClinVar

IDФенотипЭффект
RCV000031791.8Breast-ovarian cancer, familial 2Pathogenic
RCV000195406.7Hereditary breast and ovarian cancer syndromePathogenic
RCV000210094.1Breast-ovarian cancer, familial 1Pathogenic
RCV000585671.1Familial cancer of breastPathogenic
RCV000045711.7not providedPathogenic
RCV000130439.5Hereditary cancer-predisposing syndromePathogenic

HGMD

IDФенотипЭффект
CI972563Breast cancerDM