CDKL5 Variant
Systematic name: c.464-2A>G
Protein name: p.Gly155Alafs*43
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822
Comments:
Variant last updated on: 2018-10-23 12:21:11
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284, Evans et al (2005) | cp29 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284, Evans et al (2005) | cp29 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187, Carvill et al (2013) | cp422 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187, Carvill et al (2013) | cp422 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp558 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp558 |
Displaying a total number of 6 proband entries matching this variant.