| Variant ID | 8841 |
|---|---|
| Entrez Gene ID | 84246 |
| Gene | MED10 (GeneCards) |
| Location | hg19 5:6395742-6395742
hg38 5:6395629-6395629 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.6395742 A>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 | -0.3613 |
| CADD Raw score (version 1.3) | -0.227662 (Deleterious) |
| FATHMM raw prediction score | 0.08003 (Tolerated) |
| Deleterious probability by DeFine | 0.3371 (Neutral) |
| Entrez Gene ID | 84246 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MED10 (GeneCards) |
| Number of variants in MED10 in this database | 1 (view all the variants) |
| Full name | mediator complex subunit 10 |
| Band | 5p15.31 |
| Other IDs | Vega: OTTHUMG00000161682 OMIM: 612382 HGNC: HGNC:28760 Ensembl: ENSG00000133398 |
| Other names | L6, NUT2, TRG20 |
| Summary | MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |