Charcot-Marie-Tooth Disease, Demyelinating, Type 1J(CHARCOT-MARIE-TOOTH Neuropathy, demyelinating, Type 1J)
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 | ITPR3/3710 | inositol 1,4,5-trisphosphate receptor type 3 | 6p21.31 | Chr6, NC_000006.12 (33621322..33696562) |
75241 nt | 62 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities