Variant information
Systematic Name (NM_004992.3:) |
c.1061G>A |
---|---|
Protein name (NP_004983) |
p.Arg354His |
Alternate systematic Name (NM_001110792.1:) |
c.1097G>A |
Alternate Protein name (NP_001104262) |
p.(Arg366His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296218C>T |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1061G>A | p.Arg354His | Female | Not Rett synd. | 2207 | :Cardiff, UK:: | View details |