TTN c.6508G>T ;(p.A2170S)

Variant ID: 2-179640083-C-A

NM_001267550.1(TTN):c.6508G>T;(p.A2170S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation.

Nature Communications
Ahlberg, Gustav G; Refsgaard, Lena L; Lundegaard, Pia R PR; Andreasen, Laura L; Ranthe, Mattis F MF; Linscheid, Nora N; Nielsen, Jonas B JB; Melbye, Mads M; Haunsø, Stig S; Sajadieh, Ahmad A; Camp, Lu L; Olesen, Søren-Peter SP; Rasmussen, Simon S; Lundby, Alicia A; Ellinor, Patrick T PT; Holst, Anders G AG; Svendsen, Jesper H JH; Olesen, Morten S MS
Publication Date: 2018-10-17

Variant appearance in text: TTN: 6508G>T
PubMed Link: 30333491
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6618.pdf
View BVdb publication page