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chr13:32912899 CAT>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.4408_4409del
Proteinp.I1470fs
Functionframeshift del
Localizationexon
hg19chr13:32912899 CAT>C
dbSNPrs80359446

Frequency in gnomAD

GenomeExome
MAX–0.000009039
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000009039
SAS–0

ClinVar

IDPhenotypeEffect
RCV000113300.2Breast-ovarian cancer, familial 2Pathogenic
RCV000564465.2Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD063460Breast cancerDM