| General information |
| Gene name |
Fumarate Hydratase |
| Gene symbol |
FH |
| Chromosome Location |
1q42.1 |
| Database location |
http://chromium.liacs.nl/LOVD2/SDH/home.php |
| Curator |
Dr. J.P.L. Bayley |
| PubMed references |
View all (unique) PubMed references in the FH database |
| Date of creation |
September 17, 2007 |
| Last update |
August 17, 2011 |
| Version |
FH110817 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
Genomic reference sequence for describing sequence variants |
| Genomic refseq ID |
NG_012338.1 |
| Transcript refseq ID |
NM_000143.3 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
155 |
| Total number of individuals with variant(s) |
326 |
| Total number of variants reported |
337 |
| Subscribe to updates of this gene |
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| NOTE |
CITATION: If you benefit from the use of this database and publish findings, please cite; (Bayley JP, Launonen V, Tomlinson IP. BMC Med Genet. 2008 Mar 25;9:20.)
SIFT (Sorting Intolerant From Tolerant) analysis of missense variants. SIFT assumes that important amino acids will be conserved, using sequence homology to predict whether an amino acid substitution will affect protein function and potentially alter the phenotype (Ng & Henikoff. Nucleic Acids Res.(2003)31(13):3812-4
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). |
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| Based on patient origin |
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| Copyright & disclaimer |
| Disclaimer: Inclusion of sequence variants in the TCAC mutation database does not imply that there is convincing evidence for pathogenicity |
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