ETFA gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ETFA
Gene name electron-transfer-flavoprotein, alpha polypeptide
Chromosome 15
Chromosomal band q23-q25
Imprinted Unknown
Genomic reference NC_000015.9
Transcript reference NM_000126.3, NM_001127716.1
Associated with diseases MADD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 29
Unique public DNA variants reported 28
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 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 3481
Entrez Gene 2108
PubMed articles ETFA
OMIM - Gene 608053
OMIM - Diseases MADD (MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY)
HGMD ETFA
GeneCards ETFA
GeneTests ETFA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000114 15 transcript variant 2 NM_001127716.1 NP_001121188.1 29
00000115 15 transcript variant 1 NM_000126.3 NP_000117.1 29


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium