CDKL5 Proband Entry



Entry ID: cp282

Systematic name: c.*130_*131delinsAT

Protein name: p.=

Alternate name(s): 3'UTR variation

Mutation type: 3'UTR variation

Domain: 3'UTR

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - congenital onset

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: DHPLC, MECP2 exons 1-4, CDKL5 exons 1-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B. (2011) Early infantile onset "congenital" Rett syndrome variants: Swedish experience through four decades and mutation analysis. Journal of Child Neurology 26:65-71. Pubmed ID: 21212452

Publication ID: patient 1

Comments:

Entry last updated on: 2014-03-13 06:12:43

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452 Rajaei et al (2011) cp283
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452 Rajaei et al (2011) cp284
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452 Rajaei et al (2011) cp285

Displaying a total number of 3 proband entries.