Proband information



Proband id 1853
Systematic Name c.749G>A
Protein name p.Arg250His
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
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.::