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chr13:32914800 C>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6308C>A
Proteinp.S2103X
Functionstop gain
Localizationexon
hg19chr13:32914800 C>A
dbSNPrs80358870

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000217398.1not providedPathogenic
RCV000580026.1Hereditary cancer-predisposing syndromePathogenic
RCV000113564.3Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CM148284Breast cancerDM