Variant information
Systematic Name (NM_004992.3:) |
c.317G>T |
---|---|
Protein name (NP_004983) |
p.Arg106Leu |
Alternate systematic Name (NM_001110792.1:) |
c.353G>T |
Alternate Protein name (NP_001104262) |
p.(Arg118Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297718C>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.317G>T | p.Arg106Leu | Female | Rett syndrome-Classical | 2484 | ::: | View details |