Proband information

Proband id 2421
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.666C>G p.Val222Val Female Researcher claims neither parent has variation, non-paternity ruled out Rett syndrome-Preserved speech 2421 :::
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
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