CDKL5 Proband Entry



Entry ID: cp533

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: 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: rs62641235

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 14:46:44

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138
c.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138

Displaying a total number of 2 proband entries.
Entry ID: cp533

Systematic name: c.215T>C

Protein name: p.Ile72Thr

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 14:46:44

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138
c.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138

Displaying a total number of 2 proband entries.