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chr13:32953959 AT>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.9027delT
Proteinp.Y3009fs
Functionframeshift del
Localizationexon
hg19chr13:32953959 AT>A
dbSNPrs80359742

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000522880.1not providedPathogenic
RCV000572265.1Hereditary cancer-predisposing syndromePathogenic
RCV000114033.3Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CD031027Breast and/or ovarian cancerDM