Variant information


Systematic Name c.1118C>G
Protein name p.Ser373*
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent
Evidence of Pathogenicity
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.1118C>G p.Ser373* nonsense C-term Mutation associated with disease Female Not Known 4410 :Das, S., Dempsey, M. U. Chicago::