Variant information


Systematic Name c.1461A>G
Protein name p.*487Trpext*27
Mutation type Nonstop
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
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.1461A>G p.*487Trpext*27 Nonstop C-term Unknown Female Not Known 1700 :Friez, Michael::