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chr13:32907420 GA>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.1806delA
Proteinp.G602fs
Functionframeshift del
Localizationexon
hg19chr13:32907420 GA>G
dbSNPrs80359307

Frequency in gnomAD

GenomeExome
MAX–0.0001
AFR–0
AMR–0.0000998
ASJ–0
EAS–0
FIN–0
NFE–0.00001921
SAS–0.0001

ClinVar

IDPhenotypeEffect
RCV000203637.4Hereditary breast and ovarian cancer syndromePathogenic
RCV000031344.11Breast-ovarian cancer, familial 2Pathogenic
RCV000043896.6not providedPathogenic
RCV000132177.4Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD011988Breast cancerDM