rs138710030

This variant is located in the NT5C2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Hereditary spastic paraplegia 45

About NT5C2

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

View all NT5C2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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