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

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.