rs762011633

This variant is located in the AMPD2 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Pontocerebellar hypoplasia type 9;Hereditary spastic paraplegia 63

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About AMPD2

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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