| Variant ID | 29737 |
|---|---|
| Entrez Gene ID | 728294 |
| Gene | D2HGDH (GeneCards) |
| Location | hg19 2:242684178-242684178
hg38 2:241744763-241744763 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.242684178 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7112 |
| CADD Raw score (version 1.3) | 5.535488 (Deleterious) |
| FATHMM raw prediction score | 0.9863 (Tolerated) |
| SIFT score | 0.017 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.785 (Tolerated) |
| PROVEAN score | -4.74 (Deleterious) |
| MetaSVM score | 0.941 (Deleterious) |
| MetaLR score | 0.875 (Deleterious) |
| MCAP score | 0.442 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.667 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.878 |
| Deleterious probability by iFish2 | 0.5374 (Deleterious) |
| Deleterious probability by DeFine | 0.9672 (Deleterious) |
| Entrez Gene ID | 728294 (NCBI Gene) |
|---|---|
| Official Gene Symbol | D2HGDH (GeneCards) |
| Number of variants in D2HGDH in this database | 1 (view all the variants) |
| Full name | D-2-hydroxyglutarate dehydrogenase |
| Band | 2q37.3 |
| Other IDs | Vega: OTTHUMG00000151474 OMIM: 609186 HGNC: HGNC:28358 Ensembl: ENSG00000180902 |
| Other names | D2HGD |
| Summary | 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] |
| Individual ID | 28867142.28 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |