CDKL5 Proband Entry
Entry ID: cp396
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
Gender: Female
Phenotype: Rett syndrome - not certain
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, MECP2 negative, CDKL5 Ex1-22
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: found in 1/200 (0.5%) of chromosomes
dbSNP ID:
Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar 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 | Not known - unaffected family member | Male | 22867051 Maortua et al (2012) | cp305 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp306 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp307 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp308 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp309 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp310 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp311 |
c.2389G>A | p.Asp797Asn | Not known - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp397 |
Displaying a total number of 9 proband entries.