chr11:108206576 G>A

Основные

ГенATM

ТранскриптNM_000051.3

кДНКc.8156G>A

Белокp.R2719H

Функцияmissense

Локализацияexon

hg19chr11:108206576 G>A

NM_001351834.1c.8156G>Ap.Arg2719His

NM_001351835.1c.*106518G>A

NM_001351836.1c.*106518G>A

MAX–0.0005

AFR–0

AMR–0.0005

ASJ–0

EAS–0

FIN–0

NFE–0.0001

SAS–0

RCV000586113.1not providedVUS

RCV000232453.6Ataxia-telangiectasia syndromeVUS

RCV000115262.9Hereditary cancer-predisposing syndromeVUS

CM0910527Breast cancer, susceptibility toDM