CDKL5 Proband Entry



Entry ID: cp381

Systematic name: c.1417dupA

Protein name: p.Ile473Asnfs*6

Alternate name(s): p.I473NfsX6

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical, congenital

Other mutation:

X-inactivation results: Yes - not informative

Chromosomal abnormality: No

Method of testing: direct, MECP2 negative, CDKL5 Ex1-22

Source of DNA: not stated

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 200/200 chromosomes

dbSNP ID:

Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Entry last updated on: 2014-05-15 05:58:00

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