L-2-hydroxyglutaric Aciduria(L2HGA) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | L2HGDH/79944 | L-2-hydroxyglutarate dehydrogenase | 14q21.3 | Chr14, NC_000014.9 (50242434..50312229, complement) |
69796 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
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Clinical Symptoms & Disabilities