Variant information
Systematic Name (NM_004992.3:) |
c.126dupG |
---|---|
Protein name (NP_004983) |
p.His43fs |
Alternate systematic Name (NM_001110792.1:) |
c.162dupG |
Alternate Protein name (NP_001104262) |
p.(His55Alafs*2) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297909dupC |
Mutation type | Frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.126dupG | p.His43fs | Female | Rett syndrome-Atypical | 2100 | :Cardiff, UK:: | View details |