TTN c.9857A>G ;(p.K3286R)

Variant ID: 2-179629385-T-C

NM_001267550.1(TTN):c.9857A>G;(p.K3286R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.

The Journal Of Cardiovascular Aging
Pourebrahim, Kimia K; Marian, John Garrity JG; Tan, Yanli Y; Chang, Jeffrey T JT; Marian, Ali J AJ
Publication Date: 2021

Variant appearance in text: TTN: K3286R
PubMed Link: 34790974
Variant Present in the following documents:
  • Main text
  • nihms-1739287.pdf
View BVdb publication page



Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.

Scientific Reports
Kapoor, Ashish A; Bakshy, Kiranmayee K; Xu, Linda L; Nandakumar, Priyanka P; Lee, Dongwon D; Boerwinkle, Eric E; Grove, Megan L ML; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2016-06-20

Variant appearance in text: TTN: K3286R
PubMed Link: 27321809
Variant Present in the following documents:
  • Main text
  • srep28356.pdf
  • srep28356-s1.pdf
View BVdb publication page