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chr13:32906565 C>CA

Основные

ГенBRCA2
ТранскриптNM_000059.3
кДНКc.951dupA
Белокp.T317fs
Функцияframeshift ins
Локализацияexon
hg19chr13:32906565 C>CA

Частота в gnomAD

GenomeExome
MAX0.00006275
AFR0
AMR0
ASJ0
EAS0.00006275
FIN0
NFE0.00000945
SAS0

ClinVar

IDФенотипЭффект
RCV000213917.2not providedPathogenic
RCV000077045.6Breast-ovarian cancer, familial 2Pathogenic
RCV000467638.1Familial cancer of breastPathogenic
RCV000045857.3Hereditary breast and ovarian cancer syndromePathogenic
RCV000166558.4Hereditary cancer-predisposing syndromePathogenic

HGMD

IDФенотипЭффект
CI033568Breast cancerDM