ATM c.3902A>G ;(p.E1301G)

Variant ID: 11-108155109-A-G

NM_000051.3(ATM):c.3902A>G;(p.E1301G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ATM: E1301G; rs776762178
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.

Cold Spring Harbor Molecular Case Studies
Yang, Chen C; Austin, Frances F; Richard, Hope H; Idowu, Michael M; Williamson, Vernell V; Sabato, Fernanda F; Ferreira-Gonzalez, Andrea A; Turner, Scott A SA
Publication Date: 2019-10

Variant appearance in text: ATM: 3902A>G; Glu1301Gly
PubMed Link: 31604779
Variant Present in the following documents:
  • Main text
  • MCS003863Yan.pdf
View BVdb publication page