Variant information
Systematic Name (NM_004992.3:) |
c.464T>G |
---|---|
Protein name (NP_004983) |
p.Phe155Cys |
Alternate systematic Name (NM_001110792.1:) |
c.500T>G |
Alternate Protein name (NP_001104262) |
p.(Phe167Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296815A>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.464T>G | p.Phe155Cys | Female | Rett syndrome-Atypical | 2069 | :Cardiff, UK:: | View details |
2 | c.464T>G | p.Phe155Cys | Female | Not Known | 4442 | :Das, S., Dempsey, M. U. Chicago:: | View details |