Variant information


Systematic Name c.*122delT
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.*122delT 3'UTR variation 3'UTR variation 3'UTR Unknown Female Rett syndrome-Not certain 1915 :::