Log in
EnglishРусскийEnglish
VariantsStatisticsMethodsGuidelinesContactsAbout
HomeVariants

chr13:32907420 G>GA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.1806dupA
Proteinp.G602fs
Functionframeshift ins
Localizationexon
hg19chr13:32907420 G>GA
dbSNPrs80359306

Frequency in gnomAD

GenomeExome
MAX–0.00006927
AFR–0.00006927
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00001921
SAS–0

ClinVar

IDPhenotypeEffect
RCV000031343.14Breast-ovarian cancer, familial 2Pathogenic
RCV000131453.5Hereditary cancer-predisposing syndromePathogenic
RCV000043897.10Hereditary breast and ovarian cancer syndromePathogenic
RCV000160269.5not providedPathogenic

HGMD

IDPhenotypeEffect
CI972557Breast cancerDM