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 Not known
Number of chromosomes checked
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
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