Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000184837 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 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.