Proband information
Proband id | 4108 |
---|---|
Systematic Name (NM_004992.3:) |
c.1163_1201del39 |
Protein name (NP_004983) |
p.Pro388_Ser401delinsArg |
Alternate systematic Name (NM_001110792.1:) |
c.1199_1237del39 |
Alternate Protein name (NP_001104262) |
p.(Pro400_Ser413delinsArg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296078_153296116del39 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-seizures, no speech |
Reference | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1163_1201del39 | p.Pro388_Ser401delinsArg | Female | Not Rett synd. | 4108 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |