CDKL5 Variant
Variant ID: cm92
Systematic name: c.-253-?_99+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 1 to 3)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10:363-369. Pubmed ID: 19471977
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.-253-?_99+?del | p.Met1? | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 19807736, Cordova-Fletes et al (2010) | cp141 |
c.[=/-253-?_99+?del] | p.[=/Met1?] | Not Rett syndrome - severe developmental delay with possible regression | Male | 21293276, Bartnik et al (2011) | cp227 |
c.-253-?_99+?del | p.Met1? | Not Rett syndrome - early-onset seizures | Female | 19471977, Erez et al (2009) | cp266 |
c.-253-?_99+?del | p.Met1? | Rett syndrome - atypical | Female | Directly submitted | cp286 |
Displaying a total number of 4 proband entries matching this variant.