Variant information
Systematic Name (NM_004992.3:) |
c.[608C>T(;)763C>T] |
---|---|
Protein name (NP_004983) |
p.[Thr203Met(;)Arg255*] |
Alternate systematic Name (NM_001110792.1:) |
c.[644C>T;799C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296671G>A;153296516G>A] |
Mutation type | Missense, nonsense |
Domain | inter-domain region, TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[608C>T(;)763C>T] | p.[Thr203Met(;)Arg255*] | Female | Rett syndrome-Classical | 475 | ::: | View details |