CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp5 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp6 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp7 |
c.455G>T | p.Cys152Phe | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp8 |
c.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp9 |
c.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp10 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp11 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp12 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp13 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp14 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp15 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp16 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp17 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp18 |
Displaying 14 entries