Variant information


Systematic Name c.1404G>A
Protein name p.Arg468Arg
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
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.1404G>A p.Arg468Arg Silent C-term Silent polymorphism Male Not Known 2142 :Cardiff, UK::