Variant information
Systematic Name (NM_004992.3:) |
c.[397C>T; 602C>T] |
---|---|
Protein name (NP_004983) |
p.[Arg133Cys; Ala201Val] |
Alternate systematic Name (NM_001110792.1:) |
c.[433C>T;638C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296882G>A;153296677G>A] |
Mutation type | missense |
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.[397C>T; 602C>T] | p.[Arg133Cys; Ala201Val] | Male | Rett syndrome-male variant | 3794 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 | View details |