TERT c.1590G>C ;(p.P530=)

Variant ID: 5-1282723-C-G

NM_198253.2(TERT):c.1590G>C;(p.P530=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: TERT: P530P
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Pediatric Blood & Cancer
Vogiatzi, Paraskevi P; Perdigones, Nieves N; Mason, Philip J PJ; Wilson, David B DB; Bessler, Monica M
Publication Date: 2013-06

Variant appearance in text: TERT: P530P
PubMed Link: 23335200
Variant Present in the following documents:
  • Main text
View BVdb publication page