Variant information
Systematic Name (NM_004992.3:) |
c.1145_1194del50 |
---|---|
Protein name (NP_004983) |
p.Leu382fs |
Alternate systematic Name (NM_001110792.1:) |
c.1181_1230del50 |
Alternate Protein name (NP_001104262) |
p.(Leu394Profs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296085_153296134del50 |
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.1145_1194del50 | p.Leu382fs | Unknown | Rett syndrome-Classical | 914 | ::: | View details |
2 | c.1145_1194del50 | p.Leu382fs | Female | Rett syndrome-classical | 3358 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |