Variant information
Systematic Name (NM_004992.3:) |
c.[343C>T(;)1075_1178del104] |
---|---|
Protein name (NP_004983) |
p.[Arg115Cys(;)Ser359fs] |
Alternate systematic Name (NM_001110792.1:) |
c.[379C>T;1111_1214del104] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297692G>A;153296101_153296204del104] |
Mutation type | missense, frameshift insertion or deletion |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[343C>T(;)1075_1178del104] | p.[Arg115Cys(;)Ser359fs] | Female | Rett syndrome-classical | 3852 | Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 | View details |