CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C1141890
Disease:
Congenital long QT syndrome 		0.010 GeneticVariation BEFREE We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). 24917665 2014