{{Rsnum
|rsid=80338895
|Chromosome=15
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=FAH
|position=80168263
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FAH
}}{{omim
|id=276700
|rsnum=80338895
|variant=0010
}}{{ClinVar
|rsid=80338895
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=80460605
|CHROM=15
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040002110100
|GENEINFO=FAH:2184
|GENE_NAME=FAH
|GENE_ID=2184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.80460605G>T
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=276700
|CLNDBN=Tyrosinemia type I; not provided
|Tags=PM;PMC;SLO;VLD;OTHERKG;LSD;OM
|CLNACC=RCV000012649.1; RCV000078138.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1515:C0268490:276700:882:124536006:410056006
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1515; 613871.0010
|Disease=Tyrosinemia type I; not provided
}}{{PMID Auto
|PMID=8829657
|Title=Fumarylacetoacetase mutations in tyrosinaemia type I.
}}

{{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=12203990
|Title=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.
}}