rs121908132

This is a variant in the APTX gene that changes a valine to an glycine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH)

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About APTX

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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