Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.572T>A ;(p.I191N)
Variant ID: 11-108114755-T-A
NM_000051.3(
ATM
):c.572T>A;(p.I191N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.
Frontiers In Pediatrics
Liu, Zhi-Jun ZJ; Wang, Ya-Ling YL; Xu, Yan Y
Publication Date: 2023
Variant appearance in text: ATM: 572T>A; I191N
PubMed Link:
37009283
Variant Present in the following documents:
fped-11-975696.pdf
View BVdb publication page
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Frontiers In Immunology
Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H
Publication Date: 2021
Variant appearance in text: ATM: 572T>A; Ile191Asn
PubMed Link:
35095854
Variant Present in the following documents:
DataSheet_1.pdf
View BVdb publication page