CDKL5 Variant
Variant ID: cm241
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: mosaic mutation (in 46,XY male)
Variant last updated on: 2015-02-26 03:22:52
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 |
Displaying a total number of 1 proband entries matching this variant.