| Variant ID | 16894 |
|---|---|
| Entrez Gene ID | 4193 |
| Gene | MDM2 (GeneCards) |
| Location | hg19 12:69215717-69215717
hg38 12:68821937-68821937 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.69215717 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0282 |
| CADD Raw score (version 1.3) | 0.600907 (Deleterious) |
| FATHMM raw prediction score | 0.20262 (Tolerated) |
| Deleterious probability by DeFine | 0.0734 (Neutral) |
| Entrez Gene ID | 4193 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MDM2 (GeneCards) |
| Number of variants in MDM2 in this database | 1 (view all the variants) |
| Full name | MDM2 proto-oncogene |
| Band | 12q15 |
| Other IDs | Vega: OTTHUMG00000142827 OMIM: 164785 HGNC: HGNC:6973 Ensembl: ENSG00000135679 |
| Other names | HDMX, hdm2, ACTFS |
| Summary | This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] |
| Individual ID | 29217584.16 (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; |