Variant information

Systematic Name c.56dupA
Protein name p.Leu21fs
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood
Detection direct
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
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.56dupA p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Female Not Known 4470 :Das, S., Dempsey, M. U. Chicago::