Variant information

Systematic Name c.760A>T
Protein name p.Lys254*
Mutation type Nonsense
Domain TRD
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.760A>T p.Lys254* Nonsense TRD Mutation associated with disease Female Not Known 1790 :Friez, Michael::