Variant information
Systematic Name (NM_004992.3:) |
c.1417G>C |
---|---|
Protein name (NP_004983) |
p.(Glu473Gln) |
Alternate systematic Name (NM_001110792.1:) |
c.1453G>C |
Alternate Protein name (NP_001104262) |
p.(Glu485Gln) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295862C>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.1417G>C | p.(Glu473Gln) | Male | Not Rett synd. | 6901 | ::: | View details |