Variant information


Systematic Name c.1372C>T
Protein name p.Arg458Cys
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

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 Male
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.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Female Not Known 2143 :Cardiff, UK::
2 c.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Male Not Rett synd. 2144 :Cardiff, UK::