Proband information


Proband id 4595
Systematic Name
(NM_004992.3:)		 c.[1035A>G(;)1233C>T]
Protein name
(NP_004983)		 p.[Lys345Lys(;)Ser411Ser]
Alternate systematic Name
(NM_001110792.1:)		 c.[1071A>G;1269C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296244T>C;153296046G>A]
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent MECP2 exons 1-4, CDKL5 exons 1-21
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.[1035A>G(;)1233C>T] p.[Lys345Lys(;)Ser411Ser] 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