| Variant ID | 19794 |
|---|---|
| Entrez Gene ID | 93649 |
| Gene | MYOCD (GeneCards) |
| Location | hg19 17:12636078-12636078
hg38 17:12732761-12732761 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.12636078 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0421 |
| CADD Raw score (version 1.3) | 0.020313 (Deleterious) |
| FATHMM raw prediction score | 0.15487 (Tolerated) |
| Deleterious probability by DeFine | 0.672 (Deleterious) |
| Entrez Gene ID | 93649 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYOCD (GeneCards) |
| Number of variants in MYOCD in this database | 3 (view all the variants) |
| Full name | myocardin |
| Band | 17p12 |
| Other IDs | Vega: OTTHUMG00000058767 OMIM: 606127 HGNC: HGNC:16067 Ensembl: ENSG00000141052 |
| Other names | MYCD |
| Summary | This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.03 (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; |