IVD Chromosome 15
Isovaleryl-CoA dehydrogenase
Upload your DNA to see your personal genotypes for variants in IVD.
What This Gene Does
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]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000128928
Associated Conditions (10)
Isovaleryl-CoA dehydrogenase deficiency
IVD-related disorder
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Inborn genetic diseases
Melanoma
Isovaleric acidemia
type I
Cervical cancer
type III
Key Variants
RS1163816425
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS140098686
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS143348838
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS145725101
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS145847749
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS145999491
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS146011049
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS1469021843
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS150855952
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS151118565
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS2542649437
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
RS34695403
Conflicting classifications of pathogenicity
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555404784 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566936542 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566943451 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2141289961 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS2542698265 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS371427844 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS398123681 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS540375168 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS544110604 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS568885234 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS747273828 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS747807491 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS754600862 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS763422682 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS763471771 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS781340220 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS781630355 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS786204613 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleric acidemia, type III |
| RS796051983 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS982218848 | Health Risk | Pathogenic/Likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |