Bethlem Myopathy(Bethlem myopathy 1) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | COL6A3/1293 | collagen type VI alpha 3 chain | 2q37.3 | Chr2, NC_000002.12 (237324018..237414164, complement) |
90147 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL6A2/1292 | collagen type VI alpha 2 chain | 21q22.3 | Chr21, NC_000021.9 (46098112..46132848) |
34737 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | COL6A1/1291 | collagen type VI alpha 1 chain | 21q22.3 | Chr21, NC_000021.9 (45981770..46005048) |
23279 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | COL12A1/1303 | collagen type XII alpha 1 chain | 6q13 | Chr6, NC_000006.12 (75084326..75206053, complement) |
121728 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |