CDKL5 Proband Entry



Entry ID: cp532

Systematic name: c.214_216del

Protein name: p.Ile72del

Alternate name(s): p.I72del

Mutation type: in-frame insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

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.214_216del p.Ile72del Not known Female 23064044 Raymond et al (2013) cp349
c.214_216del p. Ile72del Not known Female 23064044 Raymond et al (2013) cp349

Displaying a total number of 2 proband entries.
Entry ID: cp532

Systematic name: c.214_216del

Protein name: p. Ile72del

Alternate name(s):

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

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.214_216del p.Ile72del Not known Female 23064044 Raymond et al (2013) cp349
c.214_216del p. Ile72del Not known Female 23064044 Raymond et al (2013) cp349

Displaying a total number of 2 proband entries.