LOVD ARG1 homepage

General information
Gene name Arginase 1
Gene symbol ARG1
Chromosome Location 6q23
Database location chromium.liacs.nl
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the ARG1 database
Date of creation March 20, 2009
Last update January 24, 2011
Version ARG1 110124
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
GenBank reference NM_000045.2
Transcript refseq ID NM_000045.2
Total number of unique DNA variants reported 15
Total number of individuals with variant(s) 32
Total number of variants reported 48
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ARG1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ARG1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ARG1 database
Variants with no known pathogenicity Listing of all ARG1 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 663
Entrez Gene 383
OMIM - Gene 608313
OMIM - Disease ARG1 deficiency (ARG1D, argininemia)
HGMD ARG1
GeneTests ARG1
External link Orphanet

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