TERT c.2572C>T ;(p.R858W)

Variant ID: 5-1268645-G-A

NM_198253.2(TERT):c.2572C>T;(p.R858W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cancer spectrum and outcomes in the Mendelian short telomere syndromes.

Blood
Schratz, Kristen E KE; Haley, Lisa L; Danoff, Sonye K SK; Blackford, Amanda L AL; DeZern, Amy E AE; Gocke, Christopher D CD; Duffield, Amy S AS; Armanios, Mary M
Publication Date: 2020-05-28

Variant appearance in text: TERT: Arg858Trp
PubMed Link: 32076714
Variant Present in the following documents:
  • Main text
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: Arg858Trp
PubMed Link: 29463756
Variant Present in the following documents:
  • pnas.201720427SI.pdf
View BVdb publication page