| Variant ID | 856 |
|---|---|
| Entrez Gene ID | 22989 |
| Gene | MYH15 (GeneCards) |
| Location | hg19 3:108147658-108147658
hg38 3:108428811-108428811 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.108147658 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1148 |
| Amino acid changes in protein | R > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3564 |
| CADD Raw score (version 1.3) | 2.387956 (Deleterious) |
| FATHMM raw prediction score | 0.88 (Tolerated) |
| SIFT score | 0.041 (Deleterious) |
| MutationTaster score | 0.978 (Deleterious) |
| MutatioinAssessor score | 1.255 (Tolerated) |
| PROVEAN score | -2.14 (Tolerated) |
| MetaSVM score | -0.419 (Tolerated) |
| MetaLR score | 0.388 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.68 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.756 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.041 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.032 |
| Deleterious probability by iFish2 | 0.1464 (Neutral) |
| Deleterious probability by DeFine | 0.8458 (Deleterious) |
| Entrez Gene ID | 22989 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH15 (GeneCards) |
| Number of variants in MYH15 in this database | 1 (view all the variants) |
| Full name | myosin heavy chain 15 |
| Band | 3q13.13 |
| Other IDs | Vega: OTTHUMG00000159226 OMIM: 609929 HGNC: HGNC:31073 Ensembl: ENSG00000144821 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.01 (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; |