CDKL5 Variant

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Variant ID: cm22
Systematic name: c.1400A>G
Protein name: p.His467Arg
Alternate name(s): p.H467R
Mutation type: missense
Domain: not specified
Pathogenicity class: likely benign variant

First reference: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

Comments: likely benign variation, found in normal female carrier; reported as c.1399A>G, but should be c.1400A>G; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = C25

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.1400A>G p.His467Arg Rett syndrome - not certain Female 16015284, Evans et al (2005) cp34
c.1400A>G p.His467Arg Unaffected - unaffected family member Female 16015284, Evans et al (2005) cp35

Displaying a total number of 2 proband entries matching this variant.