Variant information
Systematic Name (NM_004992.3:) |
c.731_1166del436 |
---|---|
Protein name (NP_004983) |
p.Gln244fs |
Alternate systematic Name (NM_001110792.1:) |
c.767_1202del436 |
Alternate Protein name (NP_001104262) |
p.(Gln256Leufs*20) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296113_153296548del436 |
Mutation type | Frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.731_1166del436 | p.Gln244fs | Unknown | Rett syndrome-Not certain | 255 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |