TTN c.41104T>C ;(p.S13702P)

Variant ID: 2-179501350-A-G

NM_001267550.1(TTN):c.41104T>C;(p.S13702P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-Molecule Force Spectroscopy Studies of Missense Titin Mutations That Are Likely Causing Cardiomyopathy.

Langmuir : The Acs Journal Of Surfaces And Colloids
Zuo, Jiacheng J; Zhan, Denghuang D; Xia, Jiahao J; Li, Hongbin H
Publication Date: 2021-10-19

Variant appearance in text: TTN: Ser13702Pro
PubMed Link: 34618459
Variant Present in the following documents:
  • Main text
  • la1c02006.pdf
View BVdb publication page



Role of Titin Missense Variants in Dilated Cardiomyopathy.

Journal Of The American Heart Association
Begay, Rene L RL; Graw, Sharon S; Sinagra, Gianfranco G; Merlo, Marco M; Slavov, Dobromir D; Gowan, Katherine K; Jones, Kenneth L KL; Barbati, Giulia G; Spezzacatene, Anita A; Brun, Francesca F; Di Lenarda, Andrea A; Smith, John E JE; Granzier, Henk L HL; Mestroni, Luisa L; Taylor, Matthew M; ,
Publication Date: 2015-11-13

Variant appearance in text: TTN: 41104T>C; Ser13702Pro; rs72650078
PubMed Link: 26567375
Variant Present in the following documents:
  • Main text
  • JAH3-4-e002645.pdf
View BVdb publication page