Variant information

Systematic Name c.1170_1207del38
Protein name p.Pro391*
Mutation type frameshift insertion or deletion
Domain C-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.1170_1207del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4419 :Das, S., Dempsey, M. U. Chicago::