CDKL5 Variant
Variant ID: cm235
Systematic name: c.1612A>G
Protein name: p.Thr538Ala
Alternate name(s): p.T538A
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
dbSNP ID:
First reference: Directly submitted
Comments: no parental testing done, in silico predictions: SIFT = deleterious, MutationTaster = polymorphism, Polyphen2 = benign, AlignGVGD = C0 (benign)
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.1612A>G | p.Thr538Ala | Rett syndrome - male variant | Male | Directly submitted | cp486 |
c.1612A>G | p.Thr538Ala | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp524 |
Displaying a total number of 2 proband entries matching this variant.