Proband information
Proband id | 2520 |
---|---|
Systematic Name (NM_004992.3:) |
c.666C>G |
Protein name (NP_004983) |
p.Val222Val |
Alternate systematic Name (NM_001110792.1:) |
c.702C>G |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296613G>C |
Mutation type | Silent |
Domain | TRD |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | 276 chromosomes tested and not found in 276 chromosomes |
Detection | SSCP |
Extent | exons 1-4 |
Source of DNA | Not known |
Carrier | NC |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-Sporadic mental retardation |
Reference | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.666C>G | p.Val222Val | Female | Researcher claims neither parent has variation, non-paternity ruled out | Rett syndrome-Preserved speech | 2421 | ::: |
2 | c.666C>G | p.Val222Val | Male | Not Rett synd. | 2520 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 | |
3 | c.666C>G | p.Val222Val | Female | Rett syndrome-not certain | 4274 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |