{{Rsnum
|rsid=80338898
|Chromosome=15
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=FAH
|position=80173089
|Gene_s=FAH
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=15
|CLNACC=RCV000020129.2
|CLNALLE=1
|CLNDBN=Tyrosinemia type I
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1515:C0268490:276700:882:124536006:410056006
|CLNHGVS=NC_000015.9:g.80465431C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1515
|Disease=Tyrosinemia type I
|FwdALT=T
|FwdREF=C
|GENEINFO=FAH:2184
|GENE_ID=2184
|GENE_NAME=FAH
|REF=C
|RSPOS=80465431
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=131
|rsid=80338898
}}{{PMID Auto
|PMID=9633815
|Title=Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
}}

{{PMID Auto
|PMID=11754109
|Title=Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
}}