{{Rsnum
|rsid=11555096
|Gene=FAH
|Chromosome=15
|position=80180184
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.01056
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=FAH
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 7.1 | 92.9
| HCB | 0.0 | 2.2 | 97.8
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.0 | 2.7 | 97.3
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 2.2 | 97.8
| CHD | 0.0 | 1.8 | 98.2
| GIH | 0.0 | 3.0 | 97.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 5.2 | 94.8
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 2.9 | 97.1
| HapMapRevision=28
}}{{omim
|desc=FUMARYLACETOACETASE PSEUDODEFICIENCY
|id=276700
|rsnum=11555096
|variant=0006
}}

{{ClinVar
|rsid=11555096
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=80472526
|CHROM=15
|GMAF=0.0105
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050368000000140517110100
|GENEINFO=FAH:2184
|GENE_NAME=FAH
|GENE_ID=2184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.80472526C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1515; 613871.0006
|CLNSIG=5
|CLNCUI=C0268490
|CLNDBN=Fumarylacetoacetase pseudodeficiency; Tyrosinemia type I
|Disease=Fumarylacetoacetase pseudodeficiency; Tyrosinemia type I
|CLNACC=RCV000012643.1; RCV000020125.2
|Tags=PM;PMC;S3D;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9894; 0.01056
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1515:C0268490:276700:882:124536006:410056006
|COMMON=1
}}

{{PMID Auto
|PMID=7977370
|Title=Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
|OA=1
}}

{{PMID Auto
|PMID=11278491
|Title=Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}