| Variant ID | 20131 |
|---|---|
| Entrez Gene ID | 9862 |
| Gene | MED24 (GeneCards) |
| Location | hg19 17:38194499-38194499
hg38 17:40038246-40038246 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.38194499 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2232 |
| CADD Raw score (version 1.3) | 0.326815 (Deleterious) |
| FATHMM raw prediction score | 0.26845 (Tolerated) |
| Deleterious probability by DeFine | 0.5782 (Deleterious) |
| Entrez Gene ID | 9862 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MED24 (GeneCards) |
| Number of variants in MED24 in this database | 1 (view all the variants) |
| Full name | mediator complex subunit 24 |
| Band | 17q21.1 |
| Other IDs | Vega: OTTHUMG00000133329 OMIM: 607000 HGNC: HGNC:22963 Ensembl: ENSG00000008838 |
| Other names | MED5, CRSP4, ARC100, THRAP4, CRSP100, DRIP100, TRAP100 |
| Summary | This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |