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.




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