Huntington Disease(Chronic progressive hereditary chorea) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodegenerative 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 | HTT/3064 | huntingtin | 4p16.3 | Chr4, NC_000004.12 (3074681..3243960) |
169280 nt | 67 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | JPH3/57338 | junctophilin 3 | 16q24.2 | Chr16, NC_000016.10 (87601835..87698156) |
96322 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PRNP/5621 | prion protein | 20p13 | Chr20, NC_000020.11 (4686456..4701588) |
15133 nt | 2 | 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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