CDKL5 Variant



Variant ID: cm39

Systematic name: c.555-19C>G

Protein name: p.=

Alternate name(s): intronic variation (IVS8-19C>G)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

dbSNP ID: rs75057928

First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748

Comments: found in unaffected family members, likely to be rare polymorphism; shown in Nemos et al 2009 to have no effect on splicing

Variant last updated on: 2014-03-13 05:41:08

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.555-19C>G p.= Not Rett syndrome - not certain Female 16611748, Archer et al (2006) cp52
c.555-19C>G p.= Not Rett syndrome - not certain Female 16611748, Archer et al (2006) cp53
c.555-19C>G p.= Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp81
c.555-19C>G p.= Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp82
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp83
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp84
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp85
c.555-19C>G p.= Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821, Bahi-Buisson et al (2008) cp86
c.555-19C>G p.= Unaffected - unaffected family member Female 18790821, Bahi-Buisson et al (2008) cp87
c.555-19C>G p.= Unaffected - unaffected family member Female 18790821, Bahi-Buisson et al (2008) cp88
c.555-19C>G p.= Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp101
c.555-19C>G p.= Unaffected - unaffected family member Female 19793311, Nemos et al (2009) cp103
c.555-19C>G p.= Not known Unknown 19241098, Russo et al (2009) cp125
c.555-19C>G p.= Not known Unknown 19241098, Russo et al (2009) cp126
c.555-19C>G p.= Not Rett syndrome - infantile intractable epilepsy Female 21775177, Intusoma et al (2011) cp218
c.555-19C>G p.= Rett syndrome - atypical Female Directly submitted cp474
c.555-19C>G p.= Not Rett syndrome - epileptic encephalopathy Female Directly submitted cp481
c.555-19C>G p.= Not Rett syndrome - severe mental retardation and early seizures Female Directly submitted cp484
c.555-19C>G p.= Not Rett syndrome - epileptic encephalopathy Female Directly submitted cp490
c.555-19C>G p.= Not Rett syndrome - not certain Female Directly submitted cp492

Displaying a total number of 20 proband entries matching this variant.