LOVD SLC25A13 homepage

General information
Gene name Solute Carrier family 25 member 13
Gene symbol SLC25A13
Chromosome Location 7q21.3
Database location chromium.liacs.nl
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the SLC25A13 database
Date of creation March 20, 2009
Last update November 07, 2014
Version SLC25A13 141107
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Reference sequence file coding DNA reference sequence for describing sequence variants
GenBank reference NM_014251.2
Transcript refseq ID NM_014251.2
Total number of unique DNA variants reported 14
Total number of individuals with variant(s) 139
Total number of variants reported 165
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SLC25A13 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 SLC25A13 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SLC25A13 database
Variants with no known pathogenicity Listing of all SLC25A13 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 10983
Entrez Gene 10165
OMIM - Gene 603859
OMIM - Disease #1 citrullinemia type II, adult onset (CTLN2)
OMIM - Disease #2 citrullinemia type II, neonatal onset
HGMD SLC25A13
GeneTests SLC25A13
External link Orphanet

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.