chr11:108155007 AG>A
Annotations
GeneATM
TranscriptNM_000051.3
cDNAc.3801delG
Proteinp.E1267fs
Functionframeshift del
Localizationexon
hg19chr11:108155007 AG>A
dbSNPrs587779834
Frequency in gnomAD
GenomeExome
MAX0.000066690.00008938
AFR00
AMR00.00008938
ASJ00
EAS00
FIN00
NFE0.000066690.00006276
SAS–0
HGMD
IDPhenotypeEffect
CD961800Ataxia telangiectasiaDM