Proband information


Proband id 3095
Systematic Name
(NM_004992.3:)		 c.316C>G
Protein name
(NP_004983)		 p.Arg106Gly
Alternate systematic Name
(NM_001110792.1:)		 c.352C>G
Alternate Protein name
(NP_001104262)		 p.(Arg118Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297719G>C
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
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 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.316C>G p.Arg106Gly Female Unaffected mother is mosaic for the variation Rett syndrome-Classical 2194 :Cardiff, UK::
2 c.316C>G p.Arg106Gly Female Relative of proband Not Rett synd. 2195 :Cardiff, UK::
3 c.316C>G p.Arg106Gly Female Rett syndrome-Atypical 2196 :Cardiff, UK::
4 c.316C>G p.Arg106Gly 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 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