Variant information
Systematic Name (NM_004992.3:) |
c.[316C>T(;)917G>T(;)1061G>A] |
---|---|
Protein name (NP_004983) |
p.[Arg106Trp(;)Arg306Leu(;)Arg354His] |
Alternate systematic Name (NM_001110792.1:) |
c.[352C>T;953G>T;1097G>A] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297719G>A;153296362C>A;153296218C>T] |
Mutation type | Missense |
Domain | MBD, TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[316C>T(;)917G>T(;)1061G>A] | p.[Arg106Trp(;)Arg306Leu(;)Arg354His] | Female | Rett syndrome-Not certain | 2206 | :Cardiff, UK:: | View details |