ATF5 c.499C>T ;(p.R167C)

Variant ID: 19-50435999-C-T

NM_001193646.1(ATF5):c.499C>T;(p.R167C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: ATF5: 499C>T; rs147582462
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Plos One
Moens, Lotte N LN; De Rijk, Peter P; Reumers, Joke J; Van den Bossche, Maarten J A MJ; Glassee, Wim W; De Zutter, Sonia S; Lenaerts, An-Sofie AS; Nordin, Annelie A; Nilsson, Lars-Göran LG; Medina Castello, Ignacio I; Norrback, Karl-Fredrik KF; Goossens, Dirk D; Van Steen, Kristel K; Adolfsson, Rolf R; Del-Favero, Jurgen J
Publication Date: 2011

Variant appearance in text: ATF5: R167C
PubMed Link: 21853134
Variant Present in the following documents:
  • Main text
  • pone.0023450.pdf
View BVdb publication page