| Variant ID | 1750 |
|---|---|
| Entrez Gene ID | 4209 |
| Gene | MEF2D (GeneCards) |
| Location | hg19 1:156464400-156464400
hg38 1:156494608-156494608 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.156464400 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0311 |
| CADD Raw score (version 1.3) | 0.211252 (Deleterious) |
| FATHMM raw prediction score | 0.16573 (Tolerated) |
| Deleterious probability by DeFine | 0.5816 (Deleterious) |
| Entrez Gene ID | 4209 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEF2D (GeneCards) |
| Number of variants in MEF2D in this database | 2 (view all the variants) |
| Full name | myocyte enhancer factor 2D |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000033095 OMIM: 600663 HGNC: HGNC:6997 Ensembl: ENSG00000116604 |
| Other names | None |
| Summary | This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] |
| Individual ID | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |