CDKL5 Variant

   CSV explantation text

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

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.