DOK7 Chromosome 4
Docking protein 7
Upload your DNA to see your personal genotypes for variants in DOK7.
What This Gene Does
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated Conditions (10)
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Inborn genetic diseases
DOK7-related disorder
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
See cases
Ritscher-Schinzel syndrome 2
Rett syndrome
Abnormality of the musculature
Key Variants
RS115614731
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Inborn genetic diseases
Health Risk
RS115883468
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Inborn genetic diseases
Health Risk
RS1166517627
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Inborn genetic diseases
Health Risk
RS138010842
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
Health Risk
RS139468087
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
Health Risk
RS141141719
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, DOK7-related disorder
Health Risk
RS1417673287
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
Health Risk
RS141947707
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
Health Risk
RS142821143
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
Health Risk
RS144158112
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Inborn genetic diseases
Health Risk
RS144269117
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Inborn genetic diseases
Health Risk
RS144592743
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, DOK7-related disorder
Health Risk
All Variants (178)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754633490 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS756015202 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10 |
| RS761899995 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS769699131 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS775544277 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10 |
| RS776722884 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10 |
| RS778172294 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS778227501 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS781227659 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS863223277 | Health Risk | Pathogenic | Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10 |
| RS1168106708 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS1248986109 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS1560200925 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Inborn genetic diseases |
| RS1560224831 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3 |
| RS1728646811 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10 |
| RS1728650830 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS2475114996 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10 |
| RS606231129 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome |
| RS606231131 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS762345055 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the musculature, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS763262694 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3 |
| RS768892432 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3 |
| RS769850502 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |
| RS770987150 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3 |
| RS775583136 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome |
| RS794727884 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1 |
| RS797045040 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10 |
| RS797045528 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 3 |