The FH gene homepage
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 |
Active transcripts
| 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. |
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