rs2493141408

This variant is located in the CWF19L1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Autosomal recessive spinocerebellar ataxia 17

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About CWF19L1

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

View all CWF19L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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