Proband information



Proband id 1852
Systematic Name c.749G>A
Protein name p.Arg250His
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 1-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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 Reference
1 c.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1852 :Bunyan, D.::
2 c.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Male Not Rett synd. 1853 :Bunyan, D.::