rs2537710137

This variant is located in the AGTPBP1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter1 publication

Neurodegeneration, childhood-onset, with cerebellar atrophy

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About AGTPBP1

NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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