| Variant ID | 29686 |
|---|---|
| Entrez Gene ID | 6837 |
| Gene | MED22 (GeneCards) |
| Location | hg19 9:136208379-136208379
hg38 9:133341529-133341529 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.136208379 G>A (Genome Assembly: hg19) |
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.848 |
| CADD Raw score (version 1.3) | 0.249439 (Deleterious) |
| FATHMM raw prediction score | 0.95984 (Tolerated) |
| Deleterious probability by DeFine | 0.9016 (Deleterious) |
| Entrez Gene ID | 6837 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MED22 (GeneCards) |
| Number of variants in MED22 in this database | 1 (view all the variants) |
| Full name | mediator complex subunit 22 |
| Band | 9q34.2 |
| Other IDs | Vega: OTTHUMG00000020869 OMIM: 185641 HGNC: HGNC:11477 Ensembl: ENSG00000148297 |
| Other names | SRB6, MED24, SURF5, srf-5 |
| Summary | This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] |
| Individual ID | 28714951.362 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |