ATM c.2482A>T ;(p.K828*)

Variant ID: 11-108137913-A-T

NM_000051.3(ATM):c.2482A>T;(p.K828*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel ATM Gene Mutations.

Frontiers In Pediatrics
Huang, Peng P; Zhang, Lu L; Tang, Li L; Ren, Yi Y; Peng, Hong H; Xiong, Jie J; Liu, Lingjuan L; Xu, Jie J; Xiao, Yangyang Y; Li, Jian J; Mao, Dingan D; Liu, Liqun L
Publication Date: 2022

Variant appearance in text: ATM: 2482A>T; Lys828Ter
PubMed Link: 35586824
Variant Present in the following documents:
  • Main text
  • fped-10-877826.pdf
View BVdb publication page