Variant information
Systematic Name (NM_004992.3:) |
c.471C>G |
---|---|
Protein name (NP_004983) |
p.Phe157Leu |
Alternate systematic Name (NM_001110792.1:) |
c.507C>G |
Alternate Protein name (NP_001104262) |
p.(Phe169Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296808G>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.471C>G | p.Phe157Leu | Female | Rett syndrome-classical | 3913 | :Khajuria, R.:: | View details |