Variant information


Systematic Name c.316C>G
Protein name p.Arg106Gly
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Yes
Carrier result Unaffected mother is mosaic for the variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.316C>G p.Arg106Gly Missense MBD Unknown Female Rett syndrome-Classical 2194 :Cardiff, UK::
2 c.316C>G p.Arg106Gly Missense MBD Unknown Female Not Rett synd. 2195 :Cardiff, UK::
3 c.316C>G p.Arg106Gly Missense MBD Unknown Female Rett syndrome-Atypical 2196 :Cardiff, UK::
4 c.316C>G p.Arg106Gly missense MBD Unknown Female Rett syndrome-not certain 3095 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
5 c.316C>G p.Arg106Gly missense MBD Unknown Female Rett syndrome-not certain 3425 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