Variant information

Systematic Name c.1330_1342del13
Protein name p.Ala444fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

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.1330_1342del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1711 :Friez, Michael::