CDKL5 Variant



Variant ID: cm41

Systematic name: c.2995G>A

Protein name: p.Val999Met

Alternate name(s): p.V999M

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID: rs35693326

First reference: Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, T. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29-33. Pubmed ID: 16813600

Comments: found in unaffected mother with apparent balanced X-chromosome inactivation; in exon 20, affecting only the transcript lowly expressed; In silico prediction: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

Variant last updated on: 2014-03-13 05:41:40

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600, Nectoux et al (2006) cp54
c.2995G>A p.Val999Met Unaffected - unaffected family member Female 16813600, Nectoux et al (2006) cp55
c.2995G>A p.Val999Met Not Rett syndrome - infantile intractable epilepsy Female 21775177, Intusoma et al (2011) cp219
c.2995G>A p.Val999Met Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp319
c.2995G>A p.Val999Met Unaffected - unaffected family member Female 22867051, Maortua et al (2012) cp320
c.2995G>A p.Val999Met Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp321
c.2995G>A p.Val999Met Not Rett syndrome - developmental delay (no seizures) Female 23756444, Diebold et al (2014) cp433
c.2995G>A p.Val999Met Unaffected - unaffected family member Male 23756444, Diebold et al (2014) cp434
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510, Das et al (2013) cp439

Displaying a total number of 9 proband entries matching this variant.