Variant information

Systematic Name c.397C>G
Protein name p.Arg133Gly
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information

Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.397C>G p.Arg133Gly Missense MBD Unknown Female Not Known 1798 :Friez, Michael::
2 c.397C>G p.Arg133Gly missense MBD Unknown Female Rett syndrome-not certain 3431 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