| Variant ID | 8585 |
|---|---|
| Entrez Gene ID | 29958 |
| Gene | DMGDH (GeneCards) |
| Location | hg19 5:78303509-78303509
hg38 5:79007686-79007686 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.78303509 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1056 |
| CADD Raw score (version 1.3) | 0.095573 (Deleterious) |
| FATHMM raw prediction score | 0.11729 (Tolerated) |
| Deleterious probability by DeFine | 0.2787 (Neutral) |
| Entrez Gene ID | 29958 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DMGDH (GeneCards) |
| Number of variants in DMGDH in this database | 1 (view all the variants) |
| Full name | dimethylglycine dehydrogenase |
| Band | 5q14.1 |
| Other IDs | Vega: OTTHUMG00000108159 OMIM: 605849 HGNC: HGNC:24475 Ensembl: ENSG00000132837 |
| Other names | DMGDHD, ME2GLYDH |
| Summary | This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |