CDKL5 Proband Entry



Entry ID: cp341

Systematic name: c.525A>T

Protein name: p.Arg175Ser

Alternate name(s): p.R175S

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - Hanefeld

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs61749700

Source: Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group (2012) Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 43:37-43. Pubmed ID: 22430159

Publication ID: 9

Comments:

Entry last updated on: 2014-03-13 06:14:38

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.525A>T p.Arg175Ser Rett syndrome - not certain Female 15499549 Tao et al (2004) cp9
c.525A>T p.Arg175Ser Rett syndrome - not certain Female 15499549 Tao et al (2004) cp10

Displaying a total number of 2 proband entries.