CDKL5 Proband Entry



Entry ID: cp404

Systematic name: c.3084G>A

Protein name: p.=

Alternate name(s): p.T1028T

Mutation type: silent

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - unaffected family member

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

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

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs139155110

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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cDNA name Protein name Phenotype Gender Reference Proband ID
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c.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp6
c.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp7
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c.[404-53T>C;3003C>T;3084G>A] p.= Not known - unaffected family member Female 19241098 Russo et al (2009) cp128
c.3084G>A p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp261
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c.3084G>A p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp263
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c.[3003C>T;3084G>A] p.= Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp279
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c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp329
c.3084G>A p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp401
c.[3003C>T;3084G>A] p.= Not Rett syndrome - developmental delay and seizures Female Directly submitted cp479
[c.145+17A>G;c.146-98A>G;c.404-57T>C;c.2153-47_2153-38del10; c.3003C>T;c.3084G>A p.= Not Rett syndrome - West syndrome Male 27187038 et al () cp501

Displaying a total number of 15 proband entries.