Variant information
Systematic Name (NM_004992.3:) |
c.1079C>A |
---|---|
Protein name (NP_004983) |
p.Ser360* |
Alternate systematic Name (NM_001110792.1:) |
c.1115C>A |
Alternate Protein name (NP_001104262) |
p.(Ser372*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296200G>T |
Mutation type | Nonsense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1079C>A | p.Ser360* | Female | Rett syndrome-Not certain | 1107 | 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 |