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CHEDDA
Chr 12ADatrophin 1
Also known as: B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
The encoded protein contains serine repeats and alternating acidic-basic amino acid regions, with expansion of CAG/CAA trinucleotide repeats from normal 7-35 copies to pathogenic 49-93 copies causing dentatorubral pallidoluysian atrophy (DRPLA). DRPLA presents with cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia, while other mutations cause congenital hypotonia, epilepsy, developmental delay, and digital anomalies. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CHEDDA?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CHEDDA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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Links to major genomics databases and tools