Variant information

Systematic Name c.1403_1408del6
Protein name p.Arg468_Pro469del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information

Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1403_1408del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Classical 466 :::