Variant information
Systematic Name (NM_004992.3:) |
c.413T>C |
---|---|
Protein name (NP_004983) |
p.Leu138Ser |
Alternate systematic Name (NM_001110792.1:) |
c.449T>C |
Alternate Protein name (NP_001104262) |
p.(Leu150Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296866A>G |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.413T>C | p.Leu138Ser | Female | Rett syndrome-classical | 4394 | :Khajuria, R.:: | View details |