TERT c.193C>A ;(p.P65T)

Variant ID: 5-1294912-G-T

NM_198253.2(TERT):c.193C>A;(p.P65T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.

Haematologica
Clé, Diego V DV; Catto, Luiz Fernando B LFB; Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, Andre L AL; Santana, Barbara A BA; Darrigo, Luiz Guilherme LG; Valera, Elvis T ET; Koenigkam-Santos, Marcel M; Baddini-Martinez, José J; Young, Neal S NS; Martinez, Edson Z EZ; Calado, Rodrigo T RT
Publication Date: 2022-12-29

Variant appearance in text: TERT: 193C>A; Pro65Thr
PubMed Link: 36579443
Variant Present in the following documents:
  • 1081300.pdf
View BVdb publication page



Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet Journal Of Rare Diseases
Arias-Salgado, Elena G EG; Galvez, Eva E; Planas-Cerezales, Lurdes L; Pintado-Berninches, Laura L; Vallespin, Elena E; Martinez, Pilar P; Carrillo, Jaime J; Iarriccio, Laura L; Ruiz-Llobet, Anna A; Catalá, Albert A; Badell-Serra, Isabel I; Gonzalez-Granado, Luis I LI; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; Galera-Miñarro, Ana A; Rodríguez-Vigil, Carmen C; Bastos-Oreiro, Mariana M; Perez de Nanclares, Guiomar G; Leiro-Fernández, Virginia V; Uria, Maria-Luz ML; Diaz-Heredia, Cristina C; Valenzuela, Claudia C; Martín, Sara S; López-Muñiz, Belén B; Lapunzina, Pablo P; Sevilla, Julian J; Molina-Molina, María M; Perona, Rosario R; Sastre, Leandro L
Publication Date: 2019-04-17

Variant appearance in text: TERT: P65T
PubMed Link: 30995915
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1046.pdf
View BVdb publication page



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: P65T
PubMed Link: 30523342
Variant Present in the following documents:
  • 41436_2018_385_MOESM1_ESM.pdf
View BVdb publication page