CDKL5 Variant
Systematic name: c.2927C>T
Protein name: p.Pro976Leu
Alternate name(s): p.P976L
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: likely 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: in exon 20, only affects original isoforms; In silico prediction: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)
Variant last updated on: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.2927C>T | p.Pro976Leu | Rett syndrome - atypical, late regression | Female | Roche Martinez et al (2012) | cp380 |
Displaying a total number of 1 proband entries matching this variant.