ATXN2L Chromosome 16

Ataxin 2 like
1 variant 1 Health Risk

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What This Gene Does
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS772096309 Health Risk Conflicting classifications of pathogenicity
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