CDKL5 Proband Entry



Entry ID: cp192

Systematic name: c.463+22T>C

Protein name: p.=

Alternate name(s): intronic variation (IVS7+22T>C)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: inherited from unaffected mother

Familial X-inactivation:

Control screening: not found in 306/306 chromosomes

dbSNP ID: rs267608478

Source: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:10:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.463+22T>C p.= Rett syndrome - not certain Female 16015284 Evans et al (2005) cp40
c.463+22T>C p.= Not known - unaffected family member Female 20397747 White et al (2010) cp193

Displaying a total number of 2 proband entries.