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chr13:32954272 GA>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.9247delA
Proteinp.K3083fs
Functionframeshift del
Localizationexon
hg19chr13:32954272 GA>G

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000575819.1Hereditary cancer-predisposing syndromePathogenic
RCV000257577.2Breast-ovarian cancer, familial 2Pathogenic
RCV000045759.4Hereditary breast and ovarian cancer syndromePathogenic
RCV000236478.3not providedPathogenic

HGMD

IDPhenotypeEffect
CD121947Breast cancerDM