chr11:108201108 T>G

Annotations

GeneATM

TranscriptNM_000051.3

cDNAc.7475T>G

Proteinp.L2492R

Functionmissense

Localizationexon

hg19chr11:108201108 T>G

NM_001351834.1c.7475T>Gp.Leu2492Arg

NM_001351835.1c.*101050T>G

NM_001351836.1c.*101050T>G

MAX0.00050.0002

AFR00

AMR00.00002978

ASJ00

EAS00

FIN00

NFE0.00050.0002

SAS–0

RCV000786770.1Familial cancer of breastLikely pathogenic

RCV000780920.1not specifiedVUS

RCV000195623.11Ataxia-telangiectasia syndromeConflicting interpretations of pathogenicity

RCV000115252.11Hereditary cancer-predisposing syndromeVUS

RCV000488003.3not providedVUS

CM179525Chronic lymphocytic leukaemia, association withDM?