Proband information


Proband id 4593
Systematic Name
(NM_004992.3:)		 c.992A>G
Protein name
(NP_004983)		 p.Lys331Arg
Alternate systematic Name
(NM_001110792.1:)		 c.1028A>G
Alternate Protein name
(NP_001104262)		 p.(Lys343Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296287T>C
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 114 chromosomes tested and not found in 114 chromosomes
Detection direct
Extent MECP2 exons 1-4, CDKL5 exons 1-21
Source of DNA blood
Carrier Y
Carrier result in normal father
Other mutations N
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 Gender Carrier result Phenotype Proband id Reference
1 c.992A>G p.Lys331Arg Female in normal father 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 Male in daughter with congenital RTT 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