LOVD EDN3 homepage

General information
Gene name endothelin 3
Gene symbol EDN3
Chromosome Location 20q13.2-q13.3
Database location grenada.lumc.nl
Curator Veronique Pingault
PubMed references View all (unique) PubMed references in the EDN3 database
Date of creation October 05, 2009
Last update December 27, 2013
Version EDN3 131227
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Total number of unique DNA variants reported 15
Total number of individuals with variant(s) 21
Total number of variants reported 22
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NOTE Only the mutations characterized in Waardenburg syndrome and clinical variant are reported, as well as non synonymous polymorphisms from dbSNP. Mutations and variants characterized in isolated Hirschsprung disease ARE NOT INCLUDED.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the EDN3 database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the EDN3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EDN3 database
Variants with no known pathogenicity Listing of all EDN3 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 3178
Entrez Gene 1908
OMIM - Gene 131242
UniProtKB (SwissProt/TrEMBL) P14138
GeneCards EDN3
External link Orphanet

Copyright & disclaimer
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