Myopathy, Tubular Aggregate, 1(Tubular aggregate myopathy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant 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 | STIM1/6786 | stromal interaction molecule 1 | 11p15.4 | Chr11, NC_000011.10 (3854604..4093210) |
238607 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities