rs764877688

This variant is located in the LDHD gene.

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ClinVar annotation

Likely Pathogenic★★★☆
4 submitters3 publications

Abnormal circulating lactate dehydrogenase concentration; Lactic aciduria due to D-lactic acid

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About LDHD

The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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