Proband information
Proband id | 1945 |
---|---|
Systematic Name (NM_004992.3:) |
c.953A>C |
Protein name (NP_004983) |
p.Glu318Ala |
Alternate systematic Name (NM_001110792.1:) |
c.989A>C |
Alternate Protein name (NP_001104262) |
p.(Glu330Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296326T>G |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | dhplc |
Extent | Not known |
Source of DNA | Blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-atypical |
Reference | :Schanen, C.:: 15057977 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.953A>C | p.Glu318Ala | Female | Rett syndrome-classical | 1707 | :Friez, Michael:: | |
2 | c.953A>C | p.Glu318Ala | Female | Rett syndrome-atypical | 1945 | :Schanen, C.:: 15057977 |