ATM c.3994-39A>G

Variant ID: 11-108158288-A-G

NM_000051.3(ATM):c.3994-39A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.

International Journal Of Molecular Sciences
Ponomarenko, Mikhail M; Rasskazov, Dmitry D; Chadaeva, Irina I; Sharypova, Ekaterina E; Drachkova, Irina I; Oshchepkov, Dmitry D; Ponomarenko, Petr P; Savinkova, Ludmila L; Oshchepkova, Evgeniya E; Nazarenko, Maria M; Kolchanov, Nikolay N
Publication Date: 2020-02-05

Variant appearance in text: rs778072373
PubMed Link: 32033288
Variant Present in the following documents:
  • Main text
  • ijms-21-01045.pdf
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: ATM: 3994-39A>G; rs778072373
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page