CDKL5 Proband Entry



Entry ID: cp558

Systematic name: c.464-2A>G

Protein name: p.Gly155Alafs*43

Alternate name(s): p.G155fs (IVS7-2A>G)

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608480

Source: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - severe epileptic encephalopathy Female 16015284 Evans et al (2005) cp29
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187 Carvill et al (2013) cp422

Displaying a total number of 2 proband entries.
Entry ID: cp558

Systematic name: c.464-2A>G

Protein name: p.Gly155Alafs*43

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - severe epileptic encephalopathy Female 16015284 Evans et al (2005) cp29
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187 Carvill et al (2013) cp422

Displaying a total number of 2 proband entries.