{{Rsnum
|rsid=80338901
|Gene=FAH
|Chromosome=15
|position=80180230
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=FAH
}}{{omim
|id=276700
|rsnum=80338901
|variant=0003
}}{{ClinVar
|rsid=80338901
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=80472572
|CHROM=15
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=FAH:2184
|GENE_NAME=FAH
|GENE_ID=2184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.80472572G>A
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=276700
|CLNDBN=Tyrosinemia type I; not provided
|Tags=PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000012645.1; RCV000078135.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1515:C0268490:276700:882:124536006:410056006
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1515; 613871.0003
|COMMON=0
|Disease=Tyrosinemia type I; not provided
}}{{PMID|7757089}} Two novel mutations involved in hereditary tyrosinemia type I.

{{PMID|8028615}} A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

{{PMID|8318997}} Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

{{PMID|9633815}} Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

{{PMID|9705236}} Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

{{PMID|12203990}} Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.