Variant information
Systematic Name (NM_004992.3:) |
c.257C>G |
---|---|
Protein name (NP_004983) |
p.Ser86Cys |
Alternate systematic Name (NM_001110792.1:) |
c.293C>G |
Alternate Protein name (NP_001104262) |
p.(Ser98Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297778G>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.257C>G | p.Ser86Cys | Female | Rett syndrome-Not certain | 1138 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |