CDKL5 Proband Entry
Entry ID: cp133
Systematic name: c.145+4AT(11_13)
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: catalytic domain
Pathogenicity class: benign variant
Gender: Unknown
Phenotype: Not known
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5
Source of DNA: blood
Familial testing: No
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.145+4AT(11_13) | p.= | Not known | Unknown | 19241098 Russo et al (2009) | cp131 |
c.145+4AT(11_13) | p.= | Not known | Unknown | 19241098 Russo et al (2009) | cp132 |
c.145+4AT(11_13) | p.= | Not known | Unknown | 19241098 Russo et al (2009) | cp134 |
Displaying a total number of 3 proband entries.