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chr11:108121752 CAG>C

Annotations

GeneATM
TranscriptNM_000051.3
cDNAc.1561_1562del
Proteinp.R521fs
Functionframeshift del
Localizationexon
hg19chr11:108121752 CAG>C
dbSNPrs587779817

Synonyms

TranscriptcDNAProtein
NM_001351834.1c.1564_1565delp.Glu522Ilefs*43
NM_001351835.1c.*21698_*21699del
NM_001351836.1c.*21698_*21699del

Frequency in gnomAD

GenomeExome
MAX–0.00009863
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00009863
SAS–0

ClinVar

IDPhenotypeEffect
RCV000115144.9Hereditary cancer-predisposing syndromePathogenic
RCV000211964.3not providedPathogenic
RCV000169147.7Ataxia-telangiectasia syndromePathogenic

HGMD

IDPhenotypeEffect
CD961794Ataxia telangiectasiaDM