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ATM c.5006_5009del ;(p.E1669Vfs*12)
Variant ID: 11-108170441-GAGGC-G
NM_000051.3(
ATM
):c.5006_5009del;(p.E1669Vfs*12)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Glu1669Valfs*12
PubMed Link:
35095854
Variant Present in the following documents:
DataSheet_1.pdf
View BVdb publication page