Variant information


Systematic Name
(NM_004992.3:)		 c.666C>G
Protein name
(NP_004983)		 p.Val222Val
Alternate systematic Name
(NM_001110792.1:)		 c.702C>G
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296613G>C
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.666C>G p.Val222Val Female Rett syndrome-Preserved speech 2421 ::: View details
2 c.666C>G p.Val222Val Male Not Rett synd. 2520 Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 View details
3 c.666C>G p.Val222Val Female Rett syndrome-not certain 4274 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 View details