CALM3 Chromosome 19
Calmodulin 3
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What This Gene Does
This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"Receptor ligands|EF-hand domain containing|Phosphorylase kinase subunits"
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000160014
Associated Conditions (3)
Long QT syndrome 1
Long QT syndrome 16
Cardiovascular phenotype
Key Variants
RS1064796271
Conflicting classifications of pathogenicity
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS373529765
Conflicting classifications of pathogenicity
Long QT syndrome 1, Long QT syndrome 16, Cardiovascular phenotype
Health Risk
RS1057523474
Likely pathogenic
Health Risk
RS1555814427
Likely pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS1060502607
Pathogenic
Long QT syndrome 1, Long QT syndrome 16, Long QT syndrome 1
Health Risk
RS1060502608
Pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS1599759554
Pathogenic
Long QT syndrome 16, Long QT syndrome 16
Health Risk
RS1599759598
Pathogenic
Long QT syndrome 16, Long QT syndrome 1, Long QT syndrome 16
Health Risk
RS2513646355
Pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
RS35617141
Pathogenic
Long QT syndrome 1, Long QT syndrome 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796271 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 1, Long QT syndrome 1 |
| RS373529765 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 1, Long QT syndrome 16, Cardiovascular phenotype |
| RS1057523474 | Health Risk | Likely pathogenic | — |
| RS1555814427 | Health Risk | Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS1060502607 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 16, Long QT syndrome 1 |
| RS1060502608 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS1599759554 | Health Risk | Pathogenic | Long QT syndrome 16, Long QT syndrome 16 |
| RS1599759598 | Health Risk | Pathogenic | Long QT syndrome 16, Long QT syndrome 1, Long QT syndrome 16 |
| RS2513646355 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS35617141 | Health Risk | Pathogenic | Long QT syndrome 1, Long QT syndrome 1 |