Variant information
Systematic Name (NM_004992.3:) |
c.[763C>T(;)1449G>C] |
---|---|
Protein name (NP_004983) |
p.[Arg255*(;)Glu483Asp] |
Alternate systematic Name (NM_001110792.1:) |
c.[799C>T;1485G>C] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296516G>A;153295830C>G] |
Mutation type | Nonsense |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[763C>T(;)1449G>C] | p.[Arg255*(;)Glu483Asp] | Female | Rett syndrome-Classical | 1235 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 | View details |