rs267606773

This is a variant in the DPYS gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Dihydropyrimidinase deficiency (DPYSD)

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About DPYS

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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