rs755144206
This variant is located in the IVD gene.
▶ClinVar annotation
About IVD
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
View all IVD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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