Phenotype #0000185613

Global Variome shared LOVD

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

Individual ID	00245718
Associated disease	HAE1;HAE2
Phenotype details	Probands from French pedigrees have been identified with a HAE of the intermediate type, where low antigenic C1-INH is associated with a co-expression of both variant p.(Arg494*) and wt alleles.
Diagnosis/Initial	HAE-I
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	2019-07-05 22:25:38 +02:00 (CEST)
Date last edited	2019-10-16 19:44:04 +02:00 (CEST)

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