CDKL5 Proband Entry



Entry ID: cp546

Systematic name: c.282+3_282+6delAAGT

Protein name: p.(=)

Alternate name(s):

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: likely benign variant

Gender: Female

Phenotype: Not known

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.282+3_282+6delAAGT p.(=) Not known Female 25657822 Fehr S et al (2015) cp547

Displaying a total number of 1 proband entries.