Variant information
Systematic Name (NM_004992.3:) |
c.341G>C |
---|---|
Protein name (NP_004983) |
p.Gly114Ala |
Alternate systematic Name (NM_001110792.1:) |
c.377G>C |
Alternate Protein name (NP_001104262) |
p.(Gly126Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297694C>G |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.341G>C | p.Gly114Ala | Female | Rett syndrome-Not certain | 1884 | ::: | View details |