CDKL5 Proband Entry



Entry ID: cp349

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 known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID:

Comments:

Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.214_216del p.Ile72del Not Rett syndrome Female 25657822 Fehr S et al (2015) cp532
c.214_216del p. Ile72del Not Rett syndrome Female 25657822 Fehr S et al (2015) cp532

Displaying a total number of 2 proband entries.
Entry ID: cp349

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 known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID:

Comments:

Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.214_216del p.Ile72del Not Rett syndrome Female 25657822 Fehr S et al (2015) cp532
c.214_216del p. Ile72del Not Rett syndrome Female 25657822 Fehr S et al (2015) cp532

Displaying a total number of 2 proband entries.