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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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