Charcot-Marie-Tooth Disease Type 4C(Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C)
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An 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 | SH3TC2/79628 | SH3 domain and tetratricopeptide repeats 2 | 5q32 | Chr5, NC_000005.10 (148982150..149063062, complement) |
80913 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities