G2Cdb::Human Disease report
- Disease id
- D00000135
- Name
- Griscelli syndrome
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (9207796) | Single nucleotide polymorphism (SNP) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (10704277) | Insertion (I) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (10733681) | Microinsertion (MI) | N |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (12058346) | No mutation found (N) | N |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (12148598) | Unknown (?) | Y |