CDKL5 Variant



   CSV explantation text


Variant ID: cm181

Systematic name: c.1341delC

Protein name: p.Phe447Leufs*46

Alternate name(s): p.F447Lfs*46

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic 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.1341delC p.Phe447Leufs*46 Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp375

Displaying a total number of 1 proband entries matching this variant.