| Entrez Gene ID | 4645 |
|---|---|
| Official Gene Symbol | MYO5B (GeneCards) |
| Full name | myosin VB |
| Location | 18q21.1 |
| Other ids | Vega : OTTHUMG00000179843 MIM : 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] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1043 | 4645 | MYO5B | 18 | 47402174 | 47402174 | Human Skin Fibroblasts | HiSeq 2500 |
| 20264 | 4645 | MYO5B | 18 | 47650164 | 47650164 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 20665 | 4645 | MYO5B | 18 | 47474005 | 47474005 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 20728 | 4645 | MYO5B | 18 | 47654463 | 47654463 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 28364 | 4645 | MYO5B | 18 | 47615971 | 47615971 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |