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: 2018-06-05 13:45:42
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.