Proband information


Proband id 4600
Systematic Name
(NM_004992.3:)
c.-168-?_26+?del (deletion exons 1 and 2)
Protein name
(NP_004983)
p.Met1?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type exon deletions
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
Extent MECP2 exons 1-4, CDKL5 exons 1-21
Source of DNA blood
Carrier N
Carrier result
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.-168-?_26+?del (deletion exons 1 and 2) p.Met1? Female Rett syndrome-congenital 4600 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