CDKL5 Proband Entry



Entry ID: cp405

Systematic name: c.656A>C

Protein name: p.Gln219Pro

Alternate name(s): p.Q219P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Hagebeuk, E.E.O., van den Bossche, R.A.S., de Weerd, A.W. (2013) Respiratory and sleep disturbances in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental Medicine & Child Neurology 55:480-484. Pubmed ID: 23151060

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:16:27

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