Variant information


Systematic Name c.1215C>T
Protein name p.Pro405Pro
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 Yes
Carrier result Mother has variation, unaffected brother has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-not certain
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.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Female Not Rett synd. 2149 :Cardiff, UK::
2 c.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Female Not Rett synd. 2150 :Cardiff, UK::
3 c.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Male Not Rett synd. 2151 :Cardiff, UK::