Variant information


Systematic Name c.146C>G
Protein name p.Ser49*
Mutation type nonsense
Domain N-term
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.146C>G p.Ser49* nonsense N-term Mutation associated with disease Female Not Known 4423 :Das, S., Dempsey, M. U. Chicago::