L2HGDH Chromosome 14
L-2-hydroxyglutarate dehydrogenase
Upload your DNA to see your personal genotypes for variants in L2HGDH.
What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Flavoproteins"
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000087299
Associated Conditions (4)
L-2-hydroxyglutaric aciduria
Inborn genetic diseases
L2HGDH-related disorder
Abnormality of metabolism/homeostasis
Key Variants
RS138070052
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS141715606
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS147866347
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS148241854
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS150157112
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS369101323
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS373172891
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L2HGDH-related disorder, L-2-hydroxyglutaric aciduria
Health Risk
RS375890787
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS377734247
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS564306903
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
Health Risk
RS749417358
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
RS757615298
Conflicting classifications of pathogenicity
L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138070052 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS141715606 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS147866347 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS148241854 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS150157112 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS369101323 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS373172891 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L2HGDH-related disorder, L-2-hydroxyglutaric aciduria |
| RS375890787 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS377734247 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS564306903 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS749417358 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS757615298 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS767037296 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS767231867 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS77736285 | Health Risk | Conflicting classifications of pathogenicity | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS892424035 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, L-2-hydroxyglutaric aciduria, Inborn genetic diseases |
| RS1389374650 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1555328499 | Health Risk | Likely pathogenic | — |
| RS1555330643 | Health Risk | Likely pathogenic | — |
| RS2030444679 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, Abnormality of metabolism/homeostasis, L-2-hydroxyglutaric aciduria |
| RS2502517059 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2503494836 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS570111306 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS752314078 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS771091083 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS887386390 | Health Risk | Likely pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1477101414 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, Inborn genetic diseases, L-2-hydroxyglutaric aciduria |
| RS1555328749 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1889265791 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1889521207 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1890096157 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS199690954 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2029895356 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2030438427 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2139242065 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2139977488 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2502522706 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2503494605 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2503508939 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS387907013 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS547796370 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS748910382 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS752025180 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS759631551 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS771556952 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS786200869 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS786200870 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS797045678 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS937345512 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS970541687 | Health Risk | Pathogenic | L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |