TERT c.404G>A ;(p.G135E)

Variant ID: 5-1294597-C-T

NM_198253.2(TERT):c.404G>A;(p.G135E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: TERT: 404G>A
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: TERT: 404G>A
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: Gly135Glu
PubMed Link: 29463756
Variant Present in the following documents:
  • pnas.201720427SI.pdf
View BVdb publication page



Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Chest
Gorgy, Amany I AI; Jonassaint, Naudia L NL; Stanley, Susan E SE; Koteish, Ayman A; DeZern, Amy E AE; Walter, Jolan E JE; Sopha, Sabrina C SC; Hamilton, James P JP; Hoover-Fong, Julie J; Chen, Allen R AR; Anders, Robert A RA; Kamel, Ihab R IR; Armanios, Mary M
Publication Date: 2015-10

Variant appearance in text: TERT: Gly135Glu
PubMed Link: 26158642
Variant Present in the following documents:
  • Main text
View BVdb publication page