{{Rsnum
|rsid=1154510
|Gene=HPD
|Chromosome=12
|position=121857429
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1322
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HPD
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.8 | 21.2 | 77.0
| HCB | 2.2 | 24.3 | 73.5
| JPT | 2.7 | 34.5 | 62.8
| YRI | 0.0 | 5.4 | 94.6
| ASW | 0.0 | 12.3 | 87.7
| CHB | 2.2 | 24.3 | 73.5
| CHD | 0.9 | 15.6 | 83.5
| GIH | 3.0 | 35.6 | 61.4
| LWK | 0.0 | 13.6 | 86.4
| MEX | 7.0 | 40.4 | 52.6
| MKK | 0.0 | 6.4 | 93.6
| TSI | 2.0 | 20.6 | 77.5
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1154510
|allele=C
|frequency=0.883
|uid=1103649556534
|type=homozygous_SNP
|hugo=HPD
|ensembl gene=ENSG00000158104
|ensembl transcript=ENST00000289004
|sift=TOLERATED
|disease=Defects in HPD are the cause of tyrosinemia type III (MIM:276710). It is an autosomal recessive disorder presenting with acute intermittent ataxia and mild mental retardation.
}}

{{omim
|id=609695
|rsnum=1154510
|variant=0005
}}

{{ClinVar
|rsid=1154510
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=122295335
|CHROM=12
|GMAF=0.1328
|dbSNPBuildID=87
|SSR=0
|SAO=1
|VP=0x05016000000015051f110101
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000012.11:g.122295335T\x3d
|CLNORIGIN=1
|CLNSRCID=
609695.0005
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000001643.1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.1322; 0.8678
|CLNDBN=4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2931042:140350:2118
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
|GENEINFO=HPD:3242
|GENE_ID=3242
|GENE_NAME=HPD
}}

{{GET Evidence
|gene=HPD
|aa_change=Thr33Ala
|aa_change_short=T33A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1154510
|overall_frequency_n=9701
|overall_frequency_d=10758
|overall_frequency=0.901748
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=8
}}

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