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 Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Yes
Carrier result Father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
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::