CDKL5 Variant
Variant ID: cm240
Systematic name: c.2420_2430del
Protein name: p.Ser807Cysfs*2
Alternate name(s): p.S807CfsX2
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Directly submitted
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.[=/2420_2430del] | p.[=/Ser807Cysfs*2] | Not Rett syndrome - developmental delay | Male | Directly submitted | cp493 |
c.2420_2430del | p.Ser807Cysfs*2 | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp540 |
Displaying a total number of 2 proband entries matching this variant.