Variant information


Systematic Name c.210C>T
Protein name p.Ser70Ser
Mutation type Silent
Domain N-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Father is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.210C>T p.Ser70Ser Silent N-term Silent polymorphism Female Not Known 1729 :Friez, Michael::
2 c.210C>T p.Ser70Ser Silent N-term Silent polymorphism Male Not Known 1737 :Friez, Michael::
3 c.210C>T p.Ser70Ser Silent N-term Silent polymorphism Female Not Known 1763 :Friez, Michael::
4 c.210C>T p.Ser70Ser Silent N-term Silent polymorphism Male Not Known 1771 :Friez, Michael::