rs267606765

This is a variant in the DHODH gene that changes a glycine to an glutamate.

ClinVar annotation

Pathogenic☆☆☆
2 submitters1 publication

Miller syndrome (POADS)

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About DHODH

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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