Proband information



Proband id 2207
Systematic Name c.1061G>A
Protein name p.Arg354His
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood or skin
Carrier 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 Reference
1 c.1061G>A p.Arg354His Missense C-term Unknown Female Not Rett synd. 2207 :Cardiff, UK::