Variant information

Systematic Name c.666C>G
Protein name p.Val222Val
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Proband information

Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Researcher claims neither parent has variation, non-paternity ruled out
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Preserved speech
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.666C>G p.Val222Val Silent TRD Silent polymorphism Female Rett syndrome-Preserved speech 2421 :::
2 c.666C>G p.Val222Val Silent TRD Silent polymorphism 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
3 c.666C>G p.Val222Val silent TRD Silent polymorphism 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