Proband information
Proband id | 4895 |
---|---|
Systematic Name (NM_004992.3:) |
c.1151C>T |
Protein name (NP_004983) |
p.Pro384Leu |
Alternate systematic Name (NM_001110792.1:) |
c.1187C>T |
Alternate Protein name (NP_001104262) |
p.(Pro396Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296128G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | in daughter with mental retardation but not in affected brother |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | familial |
Phenotype-class | Not Rett synd.- |
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.1151C>T | p.Pro384Leu | Female | in mother with psychiatric disorder but not in brother with regression | Not Rett synd. | 4894 | 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 |
2 | c.1151C>T | p.Pro384Leu | Female | in daughter with mental retardation but not in affected brother | Not Rett synd. | 4895 | 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 |
3 | c.1151C>T | p.Pro384Leu | Female | de novo | Not Rett synd. | 4896 | 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 |