Variant information

Systematic Name c.1115_1201del87
Protein name p.His372_Ser401delinsArg
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information

Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1115_1201del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Female Not Known 1777 :Friez, Michael::