CDKL5 Variant



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Variant ID: cm146

Systematic name: c.2389G>A

Protein name: p.Asp797Asn

Alternate name(s): p.D797N

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID:

First reference: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051

Comments: found in unaffected male and normal population, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly damaging, AlignGVGD = benign (C0)

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2389G>A p.Asp797Asn Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp304
c.2389G>A p.Asp797Asn Unaffected - unaffected family member Male 22867051, Maortua et al (2012) cp305
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp306
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp307
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp308
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp309
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp310
c.2389G>A p.Asp797Asn Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp311
c.2389G>A p.Asp797Asn Rett syndrome - not certain Female Roche Martinez et al (2012) cp396
c.2389G>A p.Asp797Asn Unaffected - non-Rett syndrome control Female Roche Martinez et al (2012) cp397

Displaying a total number of 10 proband entries matching this variant.