Phenotype #0000184837

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00244873
Associated disease	HAE1;HAE2
Phenotype details	Three independent pedigrees are carrying the variant, Denmark, France Probands presenting with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with a co-expression of both variant and wt alleles.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2019-06-28 23:39:32 +02:00 (CEST)
Date last edited	2019-09-30 19:25:33 +02:00 (CEST)

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