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chr13:32954050 G>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.9117G>A
Proteinp.P3039P
Functionsynonymous
Localizationexon
hg19chr13:32954050 G>A
dbSNPrs28897756

Frequency in gnomAD

GenomeExome
MAX–0.000009119
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000009119
SAS–0

ClinVar

IDPhenotypeEffect
RCV000045725.11Hereditary breast and ovarian cancer syndromePathogenic
RCV000131039.4Hereditary cancer-predisposing syndromePathogenic
RCV000515207.1Pathogenic
RCV000031798.9Breast-ovarian cancer, familial 2Pathogenic
RCV000074560.8not providedPathogenic

HGMD

IDPhenotypeEffect
CM1516808Breast cancerDM