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chr13:32972852 C>T

Основные

ГенBRCA2
ТранскриптNM_000059.3
кДНКc.10202C>T
Белокp.T3401M
Функцияmissense
Локализацияexon
hg19chr13:32972852 C>T

Частота в gnomAD

GenomeExome
MAX0.000066680.0000654
AFR00.0000654
AMR00.00002985
ASJ00
EAS00
FIN00
NFE0.000066680.00002694
SAS0

ClinVar

IDФенотипЭффект
RCV000043725.6Hereditary breast and ovarian cancer syndromeLikely benign
RCV000435257.2not specifiedConflicting interpretations of pathogenicity
RCV000132503.4Hereditary cancer-predisposing syndromeVUS
RCV000077247.5Breast-ovarian cancer, familial 2Conflicting interpretations of pathogenicity

HGMD

IDФенотипЭффект
HM971469Breast cancerDM