Variant information


Systematic Name c.1340C>T
Protein name p.Ala447Val
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1340C>T p.Ala447Val Missense C-term Unknown Female Rett syndrome-Not certain 1650 :::