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chr17:33434399 T>TA

Annotations

GeneRAD51D
TranscriptNM_002878.3
cDNAc.330dupT
Proteinp.S111_G112delinsX
Functionstop gain
Localizationexon
hg19chr17:33434399 T>TA

Synonyms

TranscriptcDNAProtein
NM_001142571.1c.390dupTp.S131_G132delinsX
NM_133629.2c.145-900dupT
NR_037711.1n.467dupT
NR_037712.1n.467dupT

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000165244.4Hereditary cancer-predisposing syndromePathogenic
RCV000649683.1Breast-ovarian cancer, familial 4Pathogenic

HGMD

IDPhenotypeEffect
CI1718222CancerDM