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