rs201037118

This variant is located in the KHK gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Essential fructosuria

About KHK

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all KHK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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