CDKL5 Proband Entry



Entry ID: cp127

Systematic name: c.[404-53T>C;3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: serine-threonine kinase site

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known

Other mutation:

X-inactivation results: Yes - 50:50

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: maternally inherited

Familial X-inactivation:

Control screening: No

dbSNP ID:

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:

Comments:

Entry last updated on: 2014-03-13 06:07:34

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[404-53T>C;3003C>T;3084G>A] p.= Not known - unaffected family member Female 19241098 Russo et al (2009) cp128

Displaying a total number of 1 proband entries.