CDKL5 Proband Entry



Entry ID: cp502

Systematic name: c.637G>A

Protein name: p.Gly213Arg

Alternate name(s): p.Gly213Arg

Mutation type: missense

Domain:

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: Yes - 74:26

Chromosomal abnormality: Not known - 200 controls (300 chromosomes)

Method of testing: HRM, sequencing

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: () . :. Pubmed ID: 27187038

Publication ID:

Comments:

Entry last updated on: 2017-04-28 12:04:22

Similar entries in the proband database

There are no other entries in the database with a similar genotype.