Variant information
Systematic Name (NM_004992.3:) |
c.810_813delAAAG |
---|---|
Protein name (NP_004983) |
p.Lys271fs |
Alternate systematic Name (NM_001110792.1:) |
c.846_849delAAAG |
Alternate Protein name (NP_001104262) |
p.(Lys283Argfs*17) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296466_153296469delCTTT |
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.810_813delAAAG | p.Lys271fs | Female | Rett syndrome-classical | 3872 | A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome:Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.:Genetic Testing and Molecular Biomarkers: 19309283 | View details |