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chr13:32914647 C>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6155C>G
Proteinp.S2052X
Functionstop gain
Localizationexon
hg19chr13:32914647 C>G

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000257714.1Breast-ovarian cancer, familial 2Pathogenic