Variant information
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 |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.784C>T | p.Gln262* | Female | Rett syndrome-classical | 3800 | :Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences:: | View details |
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 | View details |