CDKL5 Proband Entry



Entry ID: cp486

Systematic name: c.1612A>G

Protein name: p.Thr538Ala

Alternate name(s): p.T538A

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

Gender: Male

Phenotype: Rett syndrome - male variant

Other mutation:

X-inactivation results: Not applicable

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:

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.1612A>G p.Thr538Ala Not Rett syndrome Male 25657822 Fehr S et al (2015) cp524
c.1612A>G p.Thr538Ala Not Rett syndrome Male 25657822 Fehr S et al (2015) cp524

Displaying a total number of 2 proband entries.
Entry ID: cp486

Systematic name: c.1612A>G

Protein name: p.Thr538Ala

Alternate name(s):

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

Gender: Male

Phenotype: Rett syndrome - male variant

Other mutation:

X-inactivation results: Not applicable

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:

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.1612A>G p.Thr538Ala Not Rett syndrome Male 25657822 Fehr S et al (2015) cp524
c.1612A>G p.Thr538Ala Not Rett syndrome Male 25657822 Fehr S et al (2015) cp524

Displaying a total number of 2 proband entries.