Proband information

Proband id 6582
Systematic Name
CDKL5: c.119C>T
Protein name
CDKL5: p.A40V
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain CDKL5
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-congenital onset
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 CDKL5: c.119C>T CDKL5: p.A40V Female Not Rett synd. 6582 :::