rs2503404731
This variant is located in the L2HGDH gene.
▶ClinVar annotation
About L2HGDH
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
View all L2HGDH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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