Variant information
Systematic Name (NM_004992.3:) |
c.753delC |
---|---|
Protein name (NP_004983) |
p.Gly252fs |
Alternate systematic Name (NM_001110792.1:) |
c.789delC |
Alternate Protein name (NP_001104262) |
p.(Gly264Alafs*37) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296526delG |
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.753delC | p.Gly252fs | Female | Rett syndrome-Not certain | 1111 | 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.753delC | p.Gly252fs | Female | Rett syndrome-Not certain | 1252 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | View details |
3 | c.753delC | p.Gly252fs | Female | Rett syndrome-classical | 1560 | ::: | View details |
4 | c.753delC | p.Gly252fs | Female | Not Known | 1668 | :Friez, Michael:: | View details |
5 | c.753delC | p.Gly252fs | Female | Not Known | 1815 | :Friez, Michael:: | View details |
6 | c.753delC | p.Gly252fs | Female | Rett syndrome-Classical | 2094 | :Cardiff, UK:: | View details |