D2HGDH Chromosome 2
D-2-hydroxyglutarate dehydrogenase
Upload your DNA to see your personal genotypes for variants in D2HGDH.
What This Gene Does
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000180902
Associated Conditions (4)
D-2-hydroxyglutaric aciduria 1
Inborn genetic diseases
D2HGDH-related disorder
D-2-hydroxyglutaric aciduria
Key Variants
RS112424377
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS140447217
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS141475702
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS141524359
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS142624021
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1
Health Risk
RS143231454
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS143460342
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS146408017
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS146482048
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS149504235
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
Health Risk
RS149628174
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
RS1575278743
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112424377 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS140447217 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS141475702 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS141524359 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS142624021 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS143231454 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS143460342 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS146408017 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS146482048 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS149504235 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS149628174 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1575278743 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS183342534 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS201921601 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS369135156 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS369324431 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS371102955 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS371794611 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS374304979 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS374397125 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS375162898 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, Inborn genetic diseases |
| RS375565047 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS376268002 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS377034676 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS537773004 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS556507268 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS587783517 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS747301663 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases, D-2-hydroxyglutaric aciduria 1 |
| RS753825335 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS755871797 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS758727451 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS759068118 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS763276027 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS769832110 | Health Risk | Conflicting classifications of pathogenicity | D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder |
| RS773735172 | Health Risk | Conflicting classifications of pathogenicity | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1559364994 | Health Risk | Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1575352566 | Health Risk | Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1692428076 | Health Risk | Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS199908032 | Health Risk | Likely pathogenic | D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1 |
| RS797045507 | Health Risk | Likely pathogenic | D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria |
| RS1158737546 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS121434360 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS121434361 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS121434362 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS145731647 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1559361049 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1559404382 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1692452859 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1699275754 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS2125158367 | Health Risk | Pathogenic | D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |