TERT c.2593C>G ;(p.R865G)

Variant ID: 5-1266640-G-C

NM_198253.2(TERT):c.2593C>G;(p.R865G)

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:

Clonal hematopoiesis in patients with dyskeratosis congenita.

American Journal Of Hematology
Perdigones, Nieves N; Perin, Juan C JC; Schiano, Irene I; Nicholas, Peter P; Biegel, Jaclyn A JA; Mason, Philip J PJ; Babushok, Daria V DV; Bessler, Monica M
Publication Date: 2016-12

Variant appearance in text: TERT: 2593C>G; Arg865Gly
PubMed Link: 27622320
Variant Present in the following documents:
  • Main text
View BVdb publication page