ACADVL gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ACADVL
Gene name acyl-CoA dehydrogenase, very long chain
Chromosome 17
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_000018.3, NM_001033859.2, NM_001270447.1, NM_001270448.1
Associated with diseases 201460, ACADVLD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 219
Unique public DNA variants reported 181
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 92
Entrez Gene 37
PubMed articles ACADVL
OMIM - Gene 609575
OMIM - Diseases 201460 (MOVED TO 201475)
ACADVLD (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF)
HGMD ACADVL
GeneCards ACADVL
GeneTests ACADVL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000390 17 transcript variant 1 NM_000018.3 NP_000009.1 219
00000388 17 transcript variant 3 NM_001270447.1 NP_001257376.1 212
00000389 17 transcript variant 4 NM_001270448.1 NP_001257377.1 212
00000391 17 transcript variant 2 NM_001033859.2 NP_001029031.1 212


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; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium