Proband information
Proband id | 1111 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
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 | |
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 | |
3 | c.753delC | p.Gly252fs | Female | all normal | Rett syndrome-classical | 1560 | ::: |
4 | c.753delC | p.Gly252fs | Female | Not Known | 1668 | :Friez, Michael:: | |
5 | c.753delC | p.Gly252fs | Female | Not Known | 1815 | :Friez, Michael:: | |
6 | c.753delC | p.Gly252fs | Female | Rett syndrome-Classical | 2094 | :Cardiff, UK:: |