TERT c.1957C>T ;(p.R653C)

Variant ID: 5-1279579-G-A

NM_198253.2(TERT):c.1957C>T;(p.R653C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Telomerase mutations in smokers with severe emphysema.

The Journal Of Clinical Investigation
Stanley, Susan E SE; Chen, Julian J L JJ; Podlevsky, Joshua D JD; Alder, Jonathan K JK; Hansel, Nadia N NN; Mathias, Rasika A RA; Qi, Xiaodong X; Rafaels, Nicholas M NM; Wise, Robert A RA; Silverman, Edwin K EK; Barnes, Kathleen C KC; Armanios, Mary M
Publication Date: 2015-02

Variant appearance in text: TERT: Arg653Cys
PubMed Link: 25562321
Variant Present in the following documents:
  • Main text
View BVdb publication page