TERT c.1306G>T ;(p.A436S)

Variant ID: 5-1293695-C-A

NM_198253.2(TERT):c.1306G>T;(p.A436S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.

Plos Genetics
Lovejoy, Courtney A CA; Li, Wendi W; Reisenweber, Steven S; Thongthip, Supawat S; Bruno, Joanne J; de Lange, Titia T; De, Saurav S; Petrini, John H J JH; Sung, Patricia A PA; Jasin, Maria M; Rosenbluh, Joseph J; Zwang, Yaara Y; Weir, Barbara A BA; Hatton, Charlie C; Ivanova, Elena E; Macconaill, Laura L; Hanna, Megan M; Hahn, William C WC; Lue, Neal F NF; Reddel, Roger R RR; Jiao, Yuchen Y; Kinzler, Kenneth K; Vogelstein, Bert B; Papadopoulos, Nickolas N; Meeker, Alan K AK; ,
Publication Date: 2012

Variant appearance in text: TERT: A436S
PubMed Link: 22829774
Variant Present in the following documents:
  • Main text
  • pgen.1002772.pdf
View BVdb publication page