The ETHE1 gene homepage

General information
Gene symbol ETHE1
Gene name ethylmalonic encephalopathy 1
Chromosome 19
Chromosomal band q13.32
Imprinted Unknown
Genomic reference NG_008141.1
Transcript reference NM_014297.3, XM_005258687.1, XM_005258688.1
Associated with diseases ID, Ethylmalonic encephalopathy
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 68
Unique public DNA variants reported 10
Individuals with public variants 35
Hidden variants 15
Date created November 30, -0001
Date last updated September 28, 2016
Version ETHE1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:23287
Entrez Gene 23474
PubMed articles ETHE1
OMIM - Gene 608451
OMIM - Diseases Ethylmalonic encephalopathy


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021410 19 ethylmalonic encephalopathy 1 NM_014297.3 NP_055112.2 68
00040013 19 transcript variant X2 XM_005258687.1 XP_005258744.1 -
00040014 19 transcript variant X3 XM_005258688.1 XP_005258745.1 -