Variant information

Systematic Name c.1061G>A
Protein name p.Arg354His
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Not known
Number of chromosomes checked
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1061G>A p.Arg354His Missense C-term Unknown Female Not Rett synd. 2207 :Cardiff, UK::