Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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