HIBCH Chromosome 2
3-hydroxyisobutyryl-CoA hydrolase
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What This Gene Does
This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Associated Conditions (6)
3-hydroxyisobutyryl-CoA hydrolase deficiency
Inborn genetic diseases
HIBCH-related disorder
See cases
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Cervical cancer
Key Variants
RS1114167288
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS1180861300
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS121918329
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS1246020574
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS144053672
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH-related disorder, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS1553499757
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS370294962
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS371751000
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS573302664
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, See cases, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS758938066
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS778434126
Conflicting classifications of pathogenicity
3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
Health Risk
RS1064796851
Likely pathogenic
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1114167288 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1180861300 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS121918329 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1246020574 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS144053672 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH-related disorder, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1553499757 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS370294962 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS371751000 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS573302664 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, See cases, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS758938066 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS778434126 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1064796851 | Health Risk | Likely pathogenic | — |
| RS1252871654 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1357291112 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1478491971 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1553501873 | Health Risk | Likely pathogenic | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency, Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency |
| RS1553505302 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553506164 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS2105952039 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS2105985080 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS2468719927 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS752450856 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS757976755 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS759563092 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS761431597 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS767597690 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS786204004 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS863225062 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS915412371 | Health Risk | Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, Cervical cancer, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1021805910 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1248460683 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS148693438 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1686562488 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS2468637227 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS755786597 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS770114459 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS778922921 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS786200864 | Health Risk | Pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1131692017 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1203170244 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS1364971527 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, See cases, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS143746450 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS558397748 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS74832989 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS751676774 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| RS776592661 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH-related disorder, 3-hydroxyisobutyryl-CoA hydrolase deficiency |