CDKL5 Proband Entry



Entry ID: cp138

Systematic name: c.215T>C

Protein name: p.Ile72Thr

Alternate name(s): p.I72T

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: Yes - 50:50

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5 exons 2-21

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62641235

Source: Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., Marchi, M., Riva, D. (2009) A CDKL5 mutated child with precocious puberty. American Journal of Medical Genetics Part A 149A:1046-1051. Pubmed ID: 19396824

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:07:34

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