rs2124055158

This variant is located in the ADPRS gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

About ADPRS

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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