CDKL5 Proband Entry



Entry ID: cp197

Systematic name: c.2066delC

Protein name: p.Pro689Hisfs*95

Alternate name(s): p.P689fs

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: direct, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608651

Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Publication ID: A

Comments:

Entry last updated on: 2014-03-13 06:10:03

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