KEGG   VARIANT: 10345v1
Entry
10345v1                      Variant                               
Name
TRDN mutation
Gene
TRDN  triadin [KO:K23449]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603283
Network
nt06528  Calcium signaling
Disease
H01019  Catecholaminergic polymorphic ventricular tachycardia
Reference
  Authors
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I
  Title
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
  Journal
Hum Mol Genet 21:2759-67 (2012)
DOI:10.1093/hmg/dds104
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