Log in
HomeVariants

chr13:32912353 TAATA>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.3862_3865del
Proteinp.N1288fs
Functionframeshift del
Localizationexon
hg19chr13:32912353 TAATA>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000216772.2Hereditary cancer-predisposing syndromePathogenic
RCV000044292.4Hereditary breast and ovarian cancer syndromePathogenic
RCV000412719.1not providedPathogenic
RCV000031443.10Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CD003085Breast cancerDM