CDKL5 Proband Entry
Entry ID: cp265
Systematic name: c.532C>T
Protein name: p.Arg178Trp
Alternate name(s): p.R178W
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Rett syndrome - congenital onset
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, MECP2 mutation negative
Source of DNA: not certain
Familial testing: mother negative
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608493
Source: Directly submitted
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.532C>T | p.Arg178Trp | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
c.532C>T | p.Arg178Trp | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp335 |
c.532C>T | p.Arg178Trp | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp455 |
Displaying a total number of 3 proband entries.