Variant information
Systematic Name (NM_004992.3:) |
c.953A>C |
---|---|
Protein name (NP_004983) |
p.Glu318Ala |
Alternate systematic Name (NM_001110792.1:) |
c.989A>C |
Alternate Protein name (NP_001104262) |
p.(Glu330Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296326T>G |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.953A>C | p.Glu318Ala | Female | Rett syndrome-classical | 1707 | :Friez, Michael:: | View details |
2 | c.953A>C | p.Glu318Ala | Female | Rett syndrome-atypical | 1945 | :Schanen, C.:: 15057977 | View details |