MITF c.1273G>A 29792
| Gene: | MITF |
|---|---|
| Coding Change (c.): | c.1273G>A |
| Protein Change (p.): | p.Glu425Lys |
| ClinVar Name: | NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) |
| ClinVar Number: | 29792 |
| Variant Forum: | Facebook Waardenburg Syndrome Group |
| Gene: | MITF |
|---|---|
| Coding Change (c.): | c.1273G>A |
| Protein Change (p.): | p.Glu425Lys |
| ClinVar Name: | NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) |
| ClinVar Number: | 29792 |
| Variant Forum: | Facebook Waardenburg Syndrome Group |