Variant information


Systematic Name c.[1035A>G(;)1233C>T]
Protein name p.[Lys345Lys(;)Ser411Ser]
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood
Detection direct
Extent MECP2 exons 1-4, CDKL5 exons 1-21
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-congenital
Reference Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis:Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.:Journal of Child Neurology: 21212452

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1035A>G(;)1233C>T] p.[Lys345Lys(;)Ser411Ser] silent C-term Silent polymorphism Female Rett syndrome-congenital 4595 Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis:Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.:Journal of Child Neurology: 21212452