rs148725729

This variant is located in the ATXN2L gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About ATXN2L

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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