Variant information


Systematic Name c.686C>A
Protein name p.Ser229*
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.686C>A p.Ser229* nonsense TRD Mutation associated with disease Female Not Known 4475 :Das, S., Dempsey, M. U. Chicago::