| Variant ID | 1043 |
|---|---|
| Entrez Gene ID | 4645 |
| Gene | MYO5B (GeneCards) |
| Location | hg19 18:47402174-47402174
hg38 18:49875804-49875804 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.47402174 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1140 |
| Amino acid changes in protein | A > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.6085 |
| CADD Raw score (version 1.3) | 1.350218 (Deleterious) |
| FATHMM raw prediction score | 0.93789 (Tolerated) |
| Deleterious probability by DeFine | 0.9021 (Deleterious) |
| Entrez Gene ID | 4645 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO5B (GeneCards) |
| Number of variants in MYO5B in this database | 5 (view all the variants) |
| Full name | myosin VB |
| Band | 18q21.1 |
| Other IDs | Vega: OTTHUMG00000179843 OMIM: 606540 HGNC: HGNC:7603 Ensembl: ENSG00000167306 |
| Other names | None |
| Summary | The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] |
| 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; |