The HMGCR gene homepage

General information
Gene symbol HMGCR
Gene name 3-hydroxy-3-methylglutaryl-CoA reductase
Chromosome 5
Chromosomal band q13.3-q14
Imprinted Unknown
Genomic reference NG_011449.1
Transcript reference NM_000859.2
Exon/intron information NM_000859.2 exon/intron table
Associated with diseases MD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 18
Unique public DNA variants reported 10
Individuals with public variants 32
Hidden variants 0
Download all this gene's data Download all data
Notes Linked to recessive progressive muscular dystrophy Morales-Rosado ASHG2020.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated October 30, 2020
Version HMGCR:201030

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_000859.2.
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/HMGCR
HGNC 5006
Entrez Gene 3156
PubMed articles HMGCR
OMIM - Gene 142910
HGMD HMGCR
GeneCards HMGCR
GeneTests HMGCR
Orphanet HMGCR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009474 5 transcript variant 1 NM_000859.2 NP_000850.1 18


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