Variant information


Systematic Name c.523A>T
Protein name p.Lys175*
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease

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.523A>T p.Lys175* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1679 :Friez, Michael::