Variant information
Systematic Name (NM_004992.3:) |
c.1061G>T |
---|---|
Protein name (NP_004983) |
p.Arg354Leu |
Alternate systematic Name (NM_001110792.1:) |
c.1097G>T |
Alternate Protein name (NP_001104262) |
p.(Arg366Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296218C>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1061G>T | p.Arg354Leu | Male | Not Rett synd. | 2003 | Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert:: | View details |