| Variant ID | 8271 |
|---|---|
| Entrez Gene ID | 4208 |
| Gene | MEF2C (GeneCards) |
| Location | hg19 5:88118735-88118735
hg38 5:88822918-88822918 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.88118735 A>G (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 | 0.327 |
| CADD Raw score (version 1.3) | 0.258993 (Deleterious) |
| FATHMM raw prediction score | 0.15495 (Tolerated) |
| Deleterious probability by DeFine | 0.5659 (Deleterious) |
| Entrez Gene ID | 4208 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEF2C (GeneCards) |
| Number of variants in MEF2C in this database | 4 (view all the variants) |
| Full name | myocyte enhancer factor 2C |
| Band | 5q14.3 |
| Other IDs | Vega: OTTHUMG00000162634 OMIM: 600662 HGNC: HGNC:6996 Ensembl: ENSG00000081189 |
| Other names | DEL5q14.3, C5DELq14.3 |
| Summary | This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] |
| Individual ID | 29217584.13 (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; |