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 366
Unique public DNA variants reported 327
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_000009.1 366
00000388 17 transcript variant 3 NM_001270447.1 NP_001257376.1 361
00000389 17 transcript variant 4 NM_001270448.1 NP_001257377.1 361
00000391 17 transcript variant 2 NM_001033859.2 NP_001029031.1 361


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center