Variant information

Systematic Name c.1441G>A
Protein name p.Val481Met
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 N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1441G>A p.Val481Met Missense C-term Unknown Female Rett syndrome-Not certain 1637 :Bunyan, D.::
2 c.1441G>A p.Val481Met missense C-term Unknown Female Rett syndrome-classical 4899 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191