FH gene homepage

General information
Gene symbol FH
Gene name fumarate hydratase
Chromosome 1
Chromosomal band q43
Imprinted Unknown
Genomic reference LRG_504
Transcript reference NM_000143.3
Associated with diseases FMRD, HLRCC
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 78
Unique public DNA variants reported 46
Individuals with public variants 86
Hidden variants 0
Date created May 20, 2020
Date last updated May 20, 2020
Version FH:200520

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
HGNC 3700
Entrez Gene 2271
PubMed articles FH
OMIM - Gene 136850
OMIM - Diseases FMRD (Fumarase deficiency)
HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000086 1 fumarate hydratase NM_000143.3 NP_000134.2 78


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2020. 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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