chr11:108183151 G>T
Annotations
GeneATM
TranscriptNM_000051.3
cDNAc.5932G>T
Proteinp.E1978X
Functionstop gain
Localizationexon
hg19chr11:108183151 G>T
dbSNPrs587779852
Synonyms
TranscriptcDNAProtein
NM_001351834.1c.5932G>Tp.Glu1978*
NM_001351835.1c.*83093G>T
NM_001351836.1c.*83093G>T
Frequency in gnomAD
GenomeExome
MAX–0.00009858
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00009858
SAS–0
ClinVar
IDPhenotypeEffect
RCV000515323.1Pathogenic
HGMD
IDPhenotypeEffect
CM980147Ataxia telangiectasiaDM