Proband information
Proband id | 4098 |
---|---|
Systematic Name (NM_004992.3:) |
c.784C>T |
Protein name (NP_004983) |
p.Gln262* |
Alternate systematic Name (NM_001110792.1:) |
c.820C>T |
Alternate Protein name (NP_001104262) |
p.(Gln274*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296495G>A |
Mutation type | nonsense |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
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 Known |
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.784C>T | p.Gln262* | Female | Rett syndrome-classical | 3800 | :Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences:: | |
2 | c.784C>T | p.Gln262* | Female | Not Known | 4098 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |