| Variant ID | 9675 |
|---|---|
| Entrez Gene ID | 23097 |
| Gene | CDK19 (GeneCards) |
| Location | hg19 6:110937224-110937224
hg38 6:110616021-110616021 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.110937224 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006461 |
|---|---|
| EIGEN score | -0.5143 |
| CADD Raw score (version 1.3) | -0.039985 (Deleterious) |
| FATHMM raw prediction score | 0.09178 (Tolerated) |
| Deleterious probability by DeFine | 0.16 (Neutral) |
| Entrez Gene ID | 23097 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDK19 (GeneCards) |
| Number of variants in CDK19 in this database | 3 (view all the variants) |
| Full name | cyclin dependent kinase 19 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015365 OMIM: 614720 HGNC: HGNC:19338 Ensembl: ENSG00000155111 |
| Other names | CDK11, CDC2L6, bA346C16.3 |
| Summary | This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] |
| Individual ID | 29217584.12 (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; |