TERT c.728C>T ;(p.A243V)

Variant ID: 5-1294273-G-A

NM_198253.2(TERT):c.728C>T;(p.A243V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Frontiers In Oncology
Fiesco-Roa, Moisés Ó MÓ; García-de Teresa, Benilde B; Leal-Anaya, Paula P; van 't Hek, Renée R; Wegman-Ostrosky, Talia T; Frías, Sara S; Rodríguez, Alfredo A
Publication Date: 2022

Variant appearance in text: TERT: A243V
PubMed Link: 36091172
Variant Present in the following documents:
  • Main text
  • fonc-12-949435.pdf
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: TERT: 728C>T; Ala243Val
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.

Plos One
Donaires, Flávia S FS; Scatena, Natália F NF; Alves-Paiva, Raquel M RM; Podlevsky, Joshua D JD; Logeswaran, Dhenugen D; Santana, Barbara A BA; Teixeira, Andreza C AC; Chen, Julian J-L JJ; Calado, Rodrigo T RT; Martinelli, Ana L C ALC
Publication Date: 2017

Variant appearance in text: TERT: A243V
PubMed Link: 28813500
Variant Present in the following documents:
  • Main text
  • pone.0183287.pdf
View BVdb publication page