Proband information
Proband id | 3514 |
---|---|
Systematic Name | c.310T>C |
Protein name | p.Trp104Arg |
Genomic name | g.153297725A>G |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Chromosomes tested | |
Chromosome abnormality | NK | Chromosome abnormality description |
Detection | SSCP, direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier status checked? | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |