GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Spinocerebellar Ataxia Type 40      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 CCDC88C/440193 coiled-coil domain containing 88C 14q32.11 Chr14, NC_000014.9
(91271323..91417820, complement)
146498 nt 34 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development