ATM c.103C>A ;(p.R35=)

Variant ID: 11-108098533-C-A

NM_000051.3(ATM):c.103C>A;(p.R35=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: ATM: 103C>A; R35R
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs55861249
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs55861249
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells.

Cell Death And Differentiation
Pintado-Berninches, Laura L; Fernandez-Varas, Beatriz B; Benitez-Buelga, Carlos C; Manguan-Garcia, Cristina C; Serrano-Benitez, Almudena A; Iarriccio, Laura L; Carrillo, Jaime J; Guenechea, Guillermo G; Egusquiaguirre, Susana P SP; Pedraz, Jose-Luis JL; Hernández, Rosa M RM; Igartua, Manoli M; Arias-Salgado, Elena G EG; Cortés-Ledesma, Felipe F; Sastre, Leandro L; Perona, Rosario R
Publication Date: 2019-10

Variant appearance in text: rs55861249
PubMed Link: 30670828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ATM: 103C>A; Arg35=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page