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CCDC88C - coiled-coil domain containing 88C
- Synonym(s) : DAPLE, Dvl-associating protein with a high frequency of leucine residues, HkRP2, SCA40, spinocerebellar ataxia 40
- Previous symbols and names : KIAA1509
- Type : gene with protein product
- Chromosomal location : 14q32.11-q32.12
- OMIM: 611204
- HGNC: 19967
- UniProtKB: Q9P219
- Genatlas: CCDC88C
- GenCC: CCDC88C
- Ensembl: ENSG00000015133
- IUPHAR-DB: -
- Reactome: Q9P219
- LOVD: CCDC88C
Diseases list
- Disease-causing germline mutation(s) in Congenital non-communicating hydrocephalus
ORPHA:269510 
- Disease-causing germline mutation(s) (gain of function) in Spinocerebellar ataxia type 40
ORPHA:423275
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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