RettBASE: RettSyndrome.org Variation Database

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CDKL5 Variant

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
dbSNP ID:

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.