MDM2
This page contains an overview of the genetic variation in the MDM2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
MDM2 gene and transcript details
Gene Name
Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)
Gene Links
Ensembl: ENSG00000135679 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 69,202,258 - 69,233,629 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1491 bases) | Protein (497 aa) |
|---|---|---|
 |
ENST00000462284 | ENSP00000417281 |
 |
||
 |
NM_002392.3 | |
 |
Summary of MDM2 in Cardiomyopathies
MDM2 variants in ExAC
Details of the protein-altering MDM2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 127 | 0.00176 |
| Truncating | 3 | 0.00007 |
| Missense | 96 | 0.00120 |
| Inframe | 3 | 0.00002 |
| Splice Site | 25 | 0.00047 |