Proband information


Proband id 3431
Systematic Name
(NM_004992.3:)
c.397C>G
Protein name
(NP_004983)
p.Arg133Gly
Alternate systematic Name
(NM_001110792.1:)
c.433C>G
Alternate Protein name
(NP_001104262)
p.(Arg145Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296882G>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 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.397C>G p.Arg133Gly Female Not Known 1798 :Friez, Michael::
2 c.397C>G p.Arg133Gly 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