Proband information


Proband id 6582
Systematic Name
(NM_004992.3:)
CDKL5: c.119C>T
Protein name
(NP_004983)
CDKL5: p.A40V
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
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 :::