Variant information
Systematic Name (NM_004992.3:) |
c.1150_1192del43 |
---|---|
Protein name (NP_004983) |
p.Pro384fs |
Alternate systematic Name (NM_001110792.1:) |
c.1186_1228del43 |
Alternate Protein name (NP_001104262) |
p.(Pro396Thrfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296087_153296129del43 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1150_1192del43 | p.Pro384fs | Unknown | Rett syndrome-Not certain | 257 | 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 |