CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) ×
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: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.710 GeneticVariation BEFREE A second, de novo, missense mutation (c.293A>G [p.Asn97Ser]) was subsequently identified in an individual of Iraqi origin; this individual was diagnosed with CPVT from a screening of 61 arrhythmia samples with no identified RYR2 mutations. 23040497 2012
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		G 0.710 GeneticVariation CLINVAR