Variant information


Systematic Name CDKL5: c.119C>T
Protein name CDKL5: p.A40V
Mutation type missense
Domain CDKL5
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked 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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Female Not Rett synd. 6582 :::