{{Rsnum
|rsid=80338899
|Chromosome=15
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FAH
|position=80173093
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FAH
}}{{omim
|id=276700
|rsnum=80338899
|variant=0009
}}{{ClinVar
|rsid=80338899
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=80465435
|CHROM=15
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=FAH:2184
|GENE_NAME=FAH
|GENE_ID=2184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.80465435G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1515; 613871.0009
|CLNSIG=5
|CLNCUI=C0268490; C0268490
|CLNDBN=Tyrosinemia type I
|Disease=Tyrosinemia type I
|CLNACC=RCV000012648.2
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1515:C0268490:276700:882:124536006:410056006
}}{{PMID|8162054}} Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

{{PMID|8723698}} Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.