MYL4 Chromosome 17
Myosin light chain 4
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What This Gene Does
Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin light chains, class 1
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000198336
Associated Conditions (4)
Atrial fibrillation
familial
18
Familial atrial fibrillation
Key Variants
RS144870368
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 18
Health Risk
RS776650813
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 18
Health Risk
RS1253171024
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS2547598455
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS769405762
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS770372675
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS775042268
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS906038468
Likely pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS2547600455
Pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS777913899
Pathogenic
Atrial fibrillation, familial, 18
Health Risk
RS886037778
Pathogenic
Familial atrial fibrillation, Atrial fibrillation, familial
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144870368 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 18 |
| RS776650813 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 18 |
| RS1253171024 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS2547598455 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS769405762 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS770372675 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS775042268 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS906038468 | Health Risk | Likely pathogenic | Atrial fibrillation, familial, 18 |
| RS2547600455 | Health Risk | Pathogenic | Atrial fibrillation, familial, 18 |
| RS777913899 | Health Risk | Pathogenic | Atrial fibrillation, familial, 18 |
| RS886037778 | Health Risk | Pathogenic | Familial atrial fibrillation, Atrial fibrillation, familial |