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chr11:108202604 A>C

Annotations

GeneATM
TranscriptNM_000051.3
cDNAc.7630-2A>C
Protein
Functionsplicing
Localizationsplice site
hg19chr11:108202604 A>C
dbSNPrs587779866

Synonyms

TranscriptcDNAProtein
NM_001351834.1c.7630-2A>C
NM_001351835.1c.*102546A>C
NM_001351836.1c.*102546A>C

Frequency in gnomAD

GenomeExome
MAX0.000066650.00002691
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066650.00002691
SAS–0

ClinVar

IDPhenotypeEffect
RCV000212074.3not providedPathogenic
RCV000515371.1Pathogenic
RCV000206201.5Ataxia-telangiectasia syndromePathogenic
RCV000115253.8Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CS995311Ataxia telangiectasiaDM