chr11:108205832 T>C

Annotations

GeneATM

TranscriptNM_000051.3

cDNAc.8147T>C

Proteinp.V2716A

Functionmissense

Localizationexon

hg19chr11:108205832 T>C

NM_001351834.1c.8147T>Cp.Val2716Ala

NM_001351835.1c.*105774T>C

NM_001351836.1c.*105774T>C

MAX0.00010.00005375

AFR0.00010

AMR00

ASJ00

EAS00

FIN00.0000449

NFE00.00005375

SAS–0

RCV000132066.9Hereditary cancer-predisposing syndromeLikely pathogenic

RCV000212079.4not providedPathogenic

RCV000169105.5Ataxia-telangiectasia syndromePathogenic/Likely pathogenic

CM025322Ataxia telangiectasiaDM