CDKL5 Variant
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: 2018-06-05 14:40:30
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.