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: 2014-05-15 05:58:30

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.