CDKL5 Proband Entry
Entry ID: cp285
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 7
Comments:
Entry last updated on: 2018-06-05 13:45:42
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) | 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 |
Displaying a total number of 3 proband entries.