CDKL5 Proband Entry



Entry ID: cp111

Systematic name: c.380A>G

Protein name: p.His127Arg

Alternate name(s): p.H127R

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - not specified

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608468

Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Publication ID: patient 6

Comments:

Entry last updated on: 2014-03-13 06:07:05

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.380A>G p.His127Arg Not known Female Directly submitted cp473
c.380A>G p.His127Arg Not Rett syndrome - early onset seizures Female Directly submitted cp483

Displaying a total number of 2 proband entries.