| Variant ID | 1037 |
|---|---|
| Entrez Gene ID | 8735 |
| Gene | MYH13 (GeneCards) |
| Location | hg19 17:10206578-10206578
hg38 17:10303261-10303261 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.10206578 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1868 |
| Amino acid changes in protein | L > F |
| 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 | 0.8391 |
| CADD Raw score (version 1.3) | 6.173781 (Deleterious) |
| FATHMM raw prediction score | 0.97915 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 3.34 (Deleterious) |
| PROVEAN score | -2.23 (Tolerated) |
| MetaSVM score | 0.798 (Deleterious) |
| MetaLR score | 0.753 (Deleterious) |
| MCAP score | 0.046 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.004 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.234 |
| Deleterious probability by iFish2 | 0.9952 (Deleterious) |
| Deleterious probability by DeFine | 0.9035 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |