CDKL5 Proband Entry
Entry ID: cp399
Systematic name: c.2673G>A
Protein name: p.=
Alternate name(s): p.Gln891Gln
Mutation type: silent
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: in unaffected mother
Familial X-inactivation:
Control screening: No
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.2673G>A | p.= | Not known - unaffected family member | Female | Roche Martinez et al (2012) | cp402 |
Displaying a total number of 1 proband entries.