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General information
Gene symbol FAH
Gene name fumarylacetoacetate hydrolase (fumarylacetoacetase)
Chromosome 15
Chromosomal band q23-q25
Imprinted Unknown
Genomic reference NG_012833.1
Transcript reference NM_000137.2
Exon/intron information NM_000137.2
Associated with diseases Tyrosinemia type I
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 3
Unique public DNA variants reported 2
Individuals with public variants 3
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated June 23, 2016
Version FAH:160623

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
External URL Orphanet
HGNC 3579
Entrez Gene 2184
PubMed articles FAH
OMIM - Gene 613871
OMIM - Diseases Tyrosinemia type I
GeneCards FAH
GeneTests FAH

Active transcripts




NCBI ID     

NCBI Protein ID     

00024150 15 fumarylacetoacetate hydrolase (fumarylacetoacetase) NM_000137.2 NP_000128.1 3

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