The DHCR7 gene homepage

General information
Gene symbol DHCR7
Gene name 7-dehydrocholesterol reductase
Chromosome 11
Chromosomal band q13.4
Imprinted Unknown
Genomic reference NG_012655.2
Transcript reference NM_001360.2
Exon/intron information NM_001360.2 exon/intron table
Associated with diseases ID, SLOS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Martina Witsch-Baumgartner
Total number of public variants reported 997
Unique public DNA variants reported 175
Individuals with public variants 465
Hidden variants 19
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated November 27, 2023
Version DHCR7:231127

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_001360.2.
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
External URL Infromed Constent before genetic testing
HGNC 2860
Entrez Gene 1717
PubMed articles DHCR7
OMIM - Gene 602858
OMIM - Diseases SLOS (Smith-Lemli-Opitz syndrome (SLOS))
GeneCards DHCR7
GeneTests DHCR7
Orphanet DHCR7

Active transcripts




NCBI ID     

NCBI Protein ID     

00000101 11 7-dehydrocholesterol reductase, transcript variant 1 NM_001360.2 NP_001351.2 997

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.