CDKL5 Variant



Variant ID: cm189

Systematic name: c.64+26G>A

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: ATP binding region

Pathogenicity class: benign variant

dbSNP ID:

First reference: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Variant last updated on: 2014-05-15 05:57:52

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.64+26G>A p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp383
c.64+26G>A p.= Unaffected - unaffected family member Female Roche Martinez et al (2012) cp384

Displaying a total number of 2 proband entries matching this variant.