Charcot-Marie-Tooth Disease Axonal Type 2F(Autosomal dominant Charcot-Marie-Tooth disease type 2F) 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 | HSPB1/3315 | heat shock protein family B (small) member 1 | 7q11.23 | Chr7, NC_000007.14 (76302673..76304292) |
1620 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities