Variant information


Systematic Name c.992A>G
Protein name p.Lys331Arg
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent MECP2 exons 1-4, CDKL5 exons 1-21
Number of chromosomes checked 114 chromosomes tested and not found in 114 chromosomes
Carrier status checked Yes
Carrier result in daughter with congenital RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-unaffected family member
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.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Female Rett syndrome-congenital 4593 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
2 c.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Male Not Rett synd. 4594 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