CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2854C>T | p.Arg952* | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp206 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - unaffected family member | Female | 21775177 Intusoma et al (2011) | cp207 |
c.2854C>T | p.Arg952* | benign variant | Not Rett syndrome - mild mental retardation | Female | 21775177 Intusoma et al (2011) | cp208 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - unaffected family member | Female | 21775177 Intusoma et al (2011) | cp209 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp210 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp211 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp212 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp213 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp214 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp215 |
c.1767C>T | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp216 |
c.283-99C>A | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp217 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp218 |
c.2995G>A | p.Val999Met | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp219 |
Displaying 14 entries