CDKL5 Variant
Variant ID: cm130
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
dbSNP ID:
First reference: 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
Comments:
Variant last updated on: 2018-06-05 14:40:30
Matching 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) | cp282 |
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 4 proband entries matching this variant.