CALM1 Chromosome 14
Calmodulin 1
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What This Gene Does
This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]
Gene Info
Gene Group
"Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits|UBR4 complex"
Locus Type
gene with protein product
Location
14q32.11
Ensembl
ENSG00000198668
Associated Conditions (6)
Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
CALM1-related disorder
Key Variants
RS1213908678
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Health Risk
RS1057521851
Likely pathogenic
Health Risk
RS1057523130
Likely pathogenic
Health Risk
RS1064793078
Likely pathogenic
Health Risk
RS1555366045
Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Health Risk
RS267607276
Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 4
Health Risk
RS730882253
Likely pathogenic
Long QT syndrome 14, Long QT syndrome 14
Health Risk
RS1085307479
Pathogenic
Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype
Health Risk
RS1595102640
Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
Health Risk
RS1887113791
Pathogenic
Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
Health Risk
RS1887120112
Pathogenic
Long QT syndrome 14, Long QT syndrome 14, Long QT syndrome 14
Health Risk
RS199744595
Pathogenic
Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1213908678 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4 |
| RS1057521851 | Health Risk | Likely pathogenic | — |
| RS1057523130 | Health Risk | Likely pathogenic | — |
| RS1064793078 | Health Risk | Likely pathogenic | — |
| RS1555366045 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4 |
| RS267607276 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 4 |
| RS730882253 | Health Risk | Likely pathogenic | Long QT syndrome 14, Long QT syndrome 14 |
| RS1085307479 | Health Risk | Pathogenic | Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Cardiovascular phenotype |
| RS1595102640 | Health Risk | Pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4 |
| RS1887113791 | Health Risk | Pathogenic | Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14 |
| RS1887120112 | Health Risk | Pathogenic | Long QT syndrome 14, Long QT syndrome 14, Long QT syndrome 14 |
| RS199744595 | Health Risk | Pathogenic | Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14 |
| RS2503459594 | Health Risk | Pathogenic | Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14 |
| RS267607277 | Health Risk | Pathogenic/Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4, Catecholaminergic polymorphic ventricular tachycardia 1, Long QT syndrome 14 |
| RS730882252 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 14, Long QT syndrome 14 |