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chr13:32914109 GTAAT>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.5618_5621del
Proteinp.V1873fs
Functionframeshift del
Localizationexon
hg19chr13:32914109 GTAAT>G
dbSNPrs80359526

Frequency in gnomAD

GenomeExome
MAX–0.000009056
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000009056
SAS–0

ClinVar

IDPhenotypeEffect
RCV000131115.5Hereditary cancer-predisposing syndromePathogenic
RCV000223208.2not providedPathogenic
RCV000031561.7Breast-ovarian cancer, familial 2Pathogenic
RCV000416547.6Hereditary breast and ovarian cancer syndromePathogenic

HGMD

IDPhenotypeEffect
CD972080Breast cancerDM