TTN c.44270T>A ;(p.L14757H)

Variant ID: 2-179494979-A-T

NM_001267550.1(TTN):c.44270T>A;(p.L14757H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Scientific Reports
Akinrinade, Oyediran O; Heliƶ, Tiina T; Lekanne Deprez, Ronald H RH; Jongbloed, Jan D H JDH; Boven, Ludolf G LG; van den Berg, Maarten P MP; Pinto, Yigal M YM; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Spaendonck-Zwarts, Karin van KV; van Tintelen, J Peter JP; van der Zwaag, Paul A PA; Koskenvuo, Juha J
Publication Date: 2019-03-11

Variant appearance in text: TTN: 44270T>A; Leu14757His
PubMed Link: 30858397
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39911.pdf
View BVdb publication page