| Variant ID | 17133 |
|---|---|
| Entrez Gene ID | 160851 |
| Gene | DGKH (GeneCards) |
| Location | hg19 13:42833473-42833473
hg38 13:42259337-42259337 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.42833473 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0606 |
| CADD Raw score (version 1.3) | 0.164088 (Deleterious) |
| FATHMM raw prediction score | 0.17301 (Tolerated) |
| Deleterious probability by DeFine | 0.6762 (Deleterious) |
| Entrez Gene ID | 160851 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DGKH (GeneCards) |
| Number of variants in DGKH in this database | 2 (view all the variants) |
| Full name | diacylglycerol kinase eta |
| Band | 13q14.11 |
| Other IDs | Vega: OTTHUMG00000016804 OMIM: 604071 HGNC: HGNC:2854 Ensembl: ENSG00000102780 |
| Other names | DGKeta |
| Summary | This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |