TTN c.61813A>G ;(p.I20605V)

Variant ID: 2-179454639-T-C

NM_001267550.1(TTN):c.61813A>G;(p.I20605V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

European Journal Of Human Genetics : Ejhg
Perić, Stojan S; Glumac, Jelena Nikodinović JN; Töpf, Ana A; Savić-Pavićević, Dušanka D; Phillips, Lauren L; Johnson, Katherine K; Cassop-Thompson, Marcus M; Xu, Liwen L; Bertoli, Marta M; Lek, Monkol M; MacArthur, Daniel D; Brkušanin, Miloš M; Milenković, Sanja S; Rašić, Vedrana Milić VM; Banko, Bojan B; Maksimović, Ružica R; Lochmüller, Hanns H; Stojanović, Vidosava Rakočević VR; Straub, Volker V
Publication Date: 2017-05

Variant appearance in text: TTN: 61813A>G
PubMed Link: 28295036
Variant Present in the following documents:
  • Main text
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