Proband information


Proband id 2421
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
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