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chr13:32912240 G>GA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.3749dupA
Proteinp.E1250fs
Functionframeshift ins
Localizationexon
hg19chr13:32912240 G>GA
dbSNPrs397507683

Frequency in gnomAD

GenomeExome
MAX–0.000009118
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000009118
SAS–0

ClinVar

IDPhenotypeEffect
RCV000241325.2Breast-ovarian cancer, familial 2Pathogenic
RCV000569057.1Hereditary cancer-predisposing syndromePathogenic
RCV000497278.1not providedPathogenic

HGMD

IDPhenotypeEffect
CI021449Ovarian cancerDM