TTN c.42547A>G ;(p.T14183A)

Variant ID: 2-179498679-T-C

NM_001267550.1(TTN):c.42547A>G;(p.T14183A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 42547A>G; Thr14183Ala
PubMed Link: 26567375
Variant Present in the following documents:
  • Main text
  • JAH3-4-e002645.pdf
View BVdb publication page