Variant information
Systematic Name (NM_004992.3:) |
c.[455C>G(;)582C>T] |
---|---|
Protein name (NP_004983) |
p.[Pro152Arg(;)Ser194Ser] |
Alternate systematic Name (NM_001110792.1:) |
c.[491C>G;618C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296824G>C;153296697G>A] |
Mutation type | missense, silent |
Domain | MBD, inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[455C>G(;)582C>T] | p.[Pro152Arg(;)Ser194Ser] | Female | Rett syndrome-Atypical | 4339 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |