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Gene Symbol Chromosomal
location Gene name cDNA sequence Extended
cDNA Mutation viewer
SACS
(Aliases: available to subscribers)
13q12
Spastic ataxia of Charlevoix- Saguenay (sacsin)
(Aliases: available to subscribers)
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!"#$%&'(%&'(%&'(%&'(')*%&'(')*')* Not available
Mutation type Number of mutations Mutation data by type (register or log in)
Missense/nonsense 98 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Splicing 1 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Regulatory 0 No mutations
Small deletions 43 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Small insertions 16 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Small indels 1 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Gross deletions 9 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Gross insertions/duplications 1 +,-.+,-.+,-./0-1/0-1/0-1/0-1/0-1-234-234-23455
Complex rearrangements 0 No mutations
Repeat variations 0 No mutations
Get all mutations by type
Public total (HGMD Professional 2018.3 total) 169 (262)
Disease/phenotype Number of mutations Mutation data by disease/phenotype
Spastic ataxia, Charlevoix-Saguenay 150
Ataxia 5
Spastic ataxia 4
Cerebellar ataxia 3
Neuropathy, prominent sensorimotor 2
ARSACS without leg spasticity 1
Ataxia, early-onset 1
Sacsin-related ataxia 1
Spastic ataxia, Charlevoix-Saguenay ? 1
Spastic paraplegia, non-ataxic, and peripheral neuropathy 1
