CDKL5 Proband Entry



Entry ID: cp472

Systematic name: c.554+11G>A

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: SSCP, 75% MECP2, 20% CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 40/40 chromosomes

dbSNP ID: rs267608498

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:24:09

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.554+11G>A p.= Not Rett syndrome - epileptic encephalopathy Female 20397747 White et al (2010) cp144
c.554+11G>A p.= Not known - unaffected family member Male 20397747 White et al (2010) cp145

Displaying a total number of 2 proband entries.