TTN c.7165A>T ;(p.M2389L)

Variant ID: 2-179638730-T-A

NM_001267550.1(TTN):c.7165A>T;(p.M2389L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Journal Of The American College Of Cardiology
Medeiros-Domingo, Argelia A; Bhuiyan, Zahurul A ZA; Tester, David J DJ; Hofman, Nynke N; Bikker, Hennie H; van Tintelen, J Peter JP; Mannens, Marcel M A M MM; Wilde, Arthur A M AA; Ackerman, Michael J MJ
Publication Date: 2009-11-24

Variant appearance in text: TMD: M2389L
PubMed Link: 19926015
Variant Present in the following documents:
  • Main text
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