CDKL5 Proband Entry

Entry ID: cp483

Systematic name: c.380A>G

Protein name: p.His127Arg

Alternate name(s): p.H127R

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608468

Source: Directly submitted


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.380A>G p.His127Arg Rett syndrome - not specified Female 19241098 Russo et al (2009) cp111
c.380A>G p.His127Arg Not known Female Directly submitted cp473

Displaying a total number of 2 proband entries.