rs745494100

This variant is located in the MMUT gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

About MMUT

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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