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chr11:108203492 C>T

Annotations

GeneATM
TranscriptNM_000051.3
cDNAc.7792C>T
Proteinp.R2598X
Functionstop gain
Localizationexon
hg19chr11:108203492 C>T
dbSNPrs138941496

Synonyms

TranscriptcDNAProtein
NM_001351834.1c.7792C>Tp.Arg2598*
NM_001351835.1c.*103434C>T
NM_001351836.1c.*103434C>T

Frequency in gnomAD

GenomeExome
MAX–0.00002981
AFR–0
AMR–0.00002981
ASJ–0
EAS–0
FIN–0
NFE–0.000009011
SAS–0

ClinVar

IDPhenotypeEffect
RCV000564573.1Hereditary cancer-predisposing syndromePathogenic
RCV000256020.1not providedLikely pathogenic

HGMD

IDPhenotypeEffect
CM960105Ataxia telangiectasiaDM