TERT c.175C>T ;(p.P59S)

Variant ID: 5-1294930-G-A

NM_198253.2(TERT):c.175C>T;(p.P59S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS
Publication Date: 2019-07

Variant appearance in text: TERT: 175C>T; P59S
PubMed Link: 30523342
Variant Present in the following documents:
  • Main text
  • 41436_2018_385_MOESM1_ESM.pdf
  • 41436_2018_Article_385.pdf
View BVdb publication page



The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

Frontiers In Immunology
El-Chemaly, Souheil S; Cheung, Foo F; Kotliarov, Yuri Y; O'Brien, Kevin J KJ; Gahl, William A WA; Chen, Jinguo J; Perl, Shira Y SY; Biancotto, Angélique A; Gochuico, Bernadette R BR
Publication Date: 2018

Variant appearance in text: TERT: P59S
PubMed Link: 29445374
Variant Present in the following documents:
  • Main text
  • fimmu-09-00076.pdf
View BVdb publication page