Log in
EnglishРусскийEnglish
VariantsStatisticsMethodsGuidelinesContactsAbout
HomeVariants

chr13:32903604 CTG>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.657_658del
Proteinp.T219fs
Functionframeshift del
Localizationexon
hg19chr13:32903604 CTG>C
dbSNPrs80359604

Frequency in gnomAD

GenomeExome
MAX0.00020.00007055
AFR0.00020.00007055
AMR00.00006048
ASJ00
EAS00
FIN00
NFE00.00005517
SAS–0.00003329

ClinVar

IDPhenotypeEffect
RCV000210073.2Breast-ovarian cancer, familial 1Pathogenic
RCV000466729.1Familial cancer of breastPathogenic
RCV000044988.8Hereditary breast and ovarian cancer syndromePathogenic
RCV000074548.10not providedPathogenic
RCV000131858.6Hereditary cancer-predisposing syndromePathogenic
RCV000031637.11Breast-ovarian cancer, familial 2Pathogenic
RCV000009929.4Fanconi anemia, complementation group D1Pathogenic
RCV000009930.4Wilms tumor 1Pathogenic
RCV000009931.4Glioma Risk factor
RCV000009932.6Pathogenic

HGMD

IDPhenotypeEffect
CD984134Breast and/or ovarian cancerDM