The EGLN1 gene homepage

General information
Gene symbol EGLN1
Gene name egl nine homolog 1 (C. elegans)
Chromosome 1
Chromosomal band q42.1
Imprinted Unknown
Genomic reference NG_015865.1
Transcript reference NM_022051.2
Exon/intron information NM_022051.2 exon/intron table
Associated with diseases ECYT3, HALAH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Mary Frances McMullin and Celeste Bento
Total number of public variants reported 31
Unique public DNA variants reported 26
Individuals with public variants 42
Hidden variants 2
Download all this gene's data Download all data
Notes Aliases PHD2, HPH2, SM20, ECYT3, HPH-2, HIFPH2, ZMYND6, C1orf12, HIF-PH2.
Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 01, 2022
Version EGLN1:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_022051.2.
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
Homepage URL https://www.LOVD.nl/EGLN1
External URL Erythrocytosis
HGNC 1232
Entrez Gene 54583
PubMed articles EGLN1
OMIM - Gene 606425
OMIM - Diseases ECYT3 (erythrocytosis, familial, type 3 (ECYT-3))
HALAH (hemoglobin, high altitude adaptation (HALAH))
HGMD EGLN1
GeneCards EGLN1
GeneTests EGLN1
Orphanet EGLN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006934 1 egl nine homolog 1 (C. elegans) NM_022051.2 NP_071334.1 31


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