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General information
Gene symbol ENG
Gene name endoglin
Chromosome 9
Chromosomal band q34.11
Imprinted Unknown
Genomic reference NG_009551.1
Transcript reference NM_000118.2
Associated with diseases HHT-1
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 11
Unique public DNA variants reported 10
Individuals with public variants 11
Hidden variants 0
Date created May 03, 2013
Date last updated April 02, 2015
Version ENG:150402

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 3349
Entrez Gene 2022
PubMed articles ENG
OMIM - Gene 131195
OMIM - Diseases HHT-1 (telangiectasia hemorrhagic, hereditary, Rendu, Osler and Weber (HHT-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007101 9 transcript variant 2 NM_000118.2 NP_000109.1 11