Log in
HomeVariants

chr13:32918745 G>GA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6893dupA
Proteinp.E2298fs
Functionframeshift ins
Localizationexon
hg19chr13:32918745 G>GA

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000258211.1Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CI148299Breast cancerDM