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LUMC Fumarate Hydratase gene variant database
General information
Gene symbol FH
Gene name fumarate hydratase
Chromosome 1
Chromosomal band q42.1
Imprinted Unknown
Genomic reference NG_012338.1
Transcript reference NM_000143.3
Exon/intron information NM_000143.3 exon/intron table
Associated with diseases FMRD, HLRCC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jean-Pierre Bayley
Total number of public variants reported 445
Unique public DNA variants reported 252
Individuals with public variants 366
Hidden variants 12
Download all this gene's data Download all data
Notes CITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Launonen V, Tomlinson IP (2008). BMC Med Genet. 9:20.

The variants included in the database were derived from the published literature and, where necessary, annotated to conform to current HGVS mutation nomenclature. (Note: Some variants have not yet been definitively assigned to a standard location due to the use of differing/unclear nomenclature amongst authors.) The HGVS recommended cDNA numbering starts from the first ATG of the full coding sequence. Protein reference sequences should represent the primary translation product, not a processed mature protein, and thus include any signal peptide sequences. When you notice any omissions or mistakes, please let us know (thank you).

Disclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity.
Date created September 17, 2007
Date last updated April 16, 2023
Version FH:230416

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_000143.3.
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
HGNC 3700
Entrez Gene 2271
PubMed articles FH
OMIM - Gene 136850
OMIM - Diseases FMRD (deficiency, fumarase (FMRD))
HLRCC (leiomyomatosis and renal cell cancer (HLRCC))
GeneCards FH
GeneTests FH
Orphanet FH

Active transcripts




NCBI ID     

NCBI Protein ID     

00007945 1 fumarate hydratase NM_000143.3 NP_000134.2 445

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 © 2007-2023. 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.