ATM c.433C>G ;(p.L145V)

Variant ID: 11-108106498-C-G

NM_000051.3(ATM):c.433C>G;(p.L145V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One
França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB
Publication Date: 2020

Variant appearance in text: ATM: 433C>G
PubMed Link: 33095795
Variant Present in the following documents:
  • Main text
  • pone.0240795.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ATM: L145V
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page