TERT c.2521C>T ;(p.L841F)

Variant ID: 5-1268696-G-A

NM_198253.2(TERT):c.2521C>T;(p.L841F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: Leu841Phe
PubMed Link: 29463756
Variant Present in the following documents:
  • pnas.201720427SI.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TERT: L841F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page