Variant information
Systematic Name (NM_004992.3:) |
c.277C>T |
---|---|
Protein name (NP_004983) |
p.Pro93Ser |
Alternate systematic Name (NM_001110792.1:) |
c.313C>T |
Alternate Protein name (NP_001104262) |
p.(Pro105Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297758G>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.277C>T | p.Pro93Ser | Female | Rett syndrome-Classical | 2138 | :Cardiff, UK:: | View details |