Proband information
Proband id | 4879 |
---|---|
Systematic Name (NM_004992.3:) |
c.871_1044del |
Protein name (NP_004983) |
p.Ile293_Ser350del |
Alternate systematic Name (NM_001110792.1:) |
c.907_1080del |
Alternate Protein name (NP_001104262) |
p.(Ile305_Ser362del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296235_153296408del |
Mutation type | in-frame insertion or deletion |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-atypical |
Reference | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.871_1044del | p.Ile293_Ser350del | Female | Rett syndrome-atypical | 4879 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |