Proband information
Proband id | 4899 |
---|---|
Systematic Name (NM_004992.3:) |
c.1441G>A |
Protein name (NP_004983) |
p.Val481Met |
Alternate systematic Name (NM_001110792.1:) |
c.1477G>A |
Alternate Protein name (NP_001104262) |
p.(Val493Met) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295838C>T |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Unknown |
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-classical |
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.1441G>A | p.Val481Met | Female | Rett syndrome-Not certain | 1637 | :Bunyan, D.:: | |
2 | c.1441G>A | p.Val481Met | Female | Rett syndrome-classical | 4899 | 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 |