Variant information
Systematic Name (NM_004992.3:) |
c.749G>A |
---|---|
Protein name (NP_004983) |
p.Arg250His |
Alternate systematic Name (NM_001110792.1:) |
c.785G>A |
Alternate Protein name (NP_001104262) |
p.(Arg262His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296530C>T |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.749G>A | p.Arg250His | Female | Rett syndrome-Not certain | 1852 | :Bunyan, D.:: | View details |
2 | c.749G>A | p.Arg250His | Male | Not Rett synd. | 1853 | :Bunyan, D.:: | View details |