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chr11:108206576 G>A

Annotations

GeneATM
TranscriptNM_000051.3
cDNAc.8156G>A
Proteinp.R2719H
Functionmissense
Localizationexon
hg19chr11:108206576 G>A
dbSNPrs55982963

Synonyms

TranscriptcDNAProtein
NM_001351834.1c.8156G>Ap.Arg2719His
NM_001351835.1c.*106518G>A
NM_001351836.1c.*106518G>A

Frequency in gnomAD

GenomeExome
MAX–0.0005
AFR–0
AMR–0.0005
ASJ–0
EAS–0
FIN–0
NFE–0.0001
SAS–0

ClinVar

IDPhenotypeEffect
RCV000586113.1not providedVUS
RCV000232453.6Ataxia-telangiectasia syndromeVUS
RCV000115262.9Hereditary cancer-predisposing syndromeVUS

HGMD

IDPhenotypeEffect
CM0910527Breast cancer, susceptibility toDM