| Variant ID | 20080 |
|---|---|
| Entrez Gene ID | 8735 |
| Gene | MYH13 (GeneCards) |
| Location | hg19 17:10240062-10240062
hg38 17:10336745-10336745 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.10240062 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3383 |
| CADD Raw score (version 1.3) | -0.022557 (Deleterious) |
| FATHMM raw prediction score | 0.08015 (Tolerated) |
| Deleterious probability by DeFine | 0.4038 (Neutral) |
| Entrez Gene ID | 8735 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH13 (GeneCards) |
| Number of variants in MYH13 in this database | 2 (view all the variants) |
| Full name | myosin heavy chain 13 |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000177987 OMIM: 603487 HGNC: HGNC:7571 Ensembl: ENSG00000006788 |
| Other names | MyHC-eo, MyHC-IIL |
| Summary | None |
| Individual ID | 29217584.15 (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; |