The SHH gene homepage

General information
Gene symbol SHH
Gene name sonic hedgehog
Chromosome 7
Chromosomal band q36
Imprinted Unknown
Genomic reference NG_007504.2
Transcript reference NM_000193.2
Associated with diseases HPE, HPE3, ID, MCOPCB5, SMMCI, Schizencephaly
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 91
Unique public DNA variants reported 72
Individuals with public variants 462
Hidden variants 7
Download all this gene's data Download all data
Notes We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 26, 2024
Version SHH:240226

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
Homepage URL https://www.LOVD.nl/SHH
HGNC 10848
Entrez Gene 6469
PubMed articles SHH
OMIM - Gene 600725
OMIM - Diseases HPE (holoprosencephaly (HPE))
HPE3 (holoprosencephaly, type 3 (HPE-3))
MCOPCB5 (microphthalmia, isolated, with coloboma, type 5 (MCOPCB-5))
SMMCI (single median maxillary central incisor)
Schizencephaly
HGMD SHH
GeneCards SHH
GeneTests SHH
Orphanet SHH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018880 7 sonic hedgehog NM_000193.2 NP_000184.1 91


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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 © 2013-2024. 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.

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