Variant information
Systematic Name (NM_004992.3:) |
c.752_753dupCC |
---|---|
Protein name (NP_004983) |
p.Gly252fs |
Alternate systematic Name (NM_001110792.1:) |
c.788_789dupCC |
Alternate Protein name (NP_001104262) |
p.(Gly264Profs*38) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296526_153296527dupGG |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.752_753dupCC | p.Gly252fs | Female | Rett syndrome-Not certain | 1112 | 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 |
2 | c.752_753dupCC | p.Gly252fs | Male | Not Known | 2047 | ::: | View details |
3 | c.752_753dupCC | p.Gly252fs | Female | Not Known | 4480 | :Das, S., Dempsey, M. U. Chicago:: | View details |