LOVD ACADM homepage

General information
Gene name MCAD acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
Gene symbol ACADM
Chromosome Location 1p31
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the ACADM database
Date of creation April 27, 2010
Last update October 31, 2013
Version ACADM131031
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007045.1
Transcript refseq ID NM_000016.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 73
Total number of individuals with variant(s) 4
Total number of variants reported 76
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ACADM database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 ACADM database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ACADM database
Variants with no known pathogenicity Listing of all ACADM 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
Entrez Gene 34
OMIM - Gene 607008
UniProtKB (SwissProt/TrEMBL) P11310
GeneCards ACADM
GeneTests ACADM