Proband information


Proband id 3514
Systematic Name
(NM_004992.3:)		 c.310T>C
Protein name
(NP_004983)		 p.Trp104Arg
Alternate systematic Name
(NM_001110792.1:)		 c.346T>C
Alternate Protein name
(NP_001104262)		 p.(Trp116Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297725A>G
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.310T>C p.Trp104Arg Female Rett syndrome-not certain 3514 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