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 Fragment containing mutation found in relative
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 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::