TERT c.508G>C ;(p.V170L)

Variant ID: 5-1294493-C-G

NM_198253.2(TERT):c.508G>C;(p.V170L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine
Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ
Publication Date: 2019-08-16

Variant appearance in text: TERT: Val170Leu
PubMed Link: 31426295
Variant Present in the following documents:
  • Main text
  • jcm-08-01232.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: V170L
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



Diagnostic utility of telomere length testing in a hospital-based setting.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Alder, Jonathan K JK; Hanumanthu, Vidya Sagar VS; Strong, Margaret A MA; DeZern, Amy E AE; Stanley, Susan E SE; Takemoto, Clifford M CM; Danilova, Ludmila L; Applegate, Carolyn D CD; Bolton, Stephen G SG; Mohr, David W DW; Brodsky, Robert A RA; Casella, James F JF; Greider, Carol W CW; Jackson, J Brooks JB; Armanios, Mary M
Publication Date: 2018-03-06

Variant appearance in text: TERT: Val170Leu
PubMed Link: 29463756
Variant Present in the following documents:
  • pnas.201720427SI.pdf
View BVdb publication page