Variant information
Systematic Name (NM_004992.3:) |
c.377A>G |
---|---|
Protein name (NP_004983) |
p.Asn126Ser |
Alternate systematic Name (NM_001110792.1:) |
c.413A>G |
Alternate Protein name (NP_001104262) |
p.(Asn138Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297658T>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.377A>G | p.Asn126Ser | Female | Not Rett synd. | 4094 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |