{{Rsnum
|rsid=34116584
|Gene=AGXT
|Chromosome=2
|position=240868897
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1084
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=AGXT
}}{{Venter SNP
|rsid=34116584
|allele=T
|frequency=
|uid=1103658410358
|type=homozygous_SNP
|hugo=AGXT
|ensembl gene=ENSG00000172482
|ensembl transcript=ENST00000307503
|sift=AFFECT FUNCTION
|disease=Defects in AGXT are the cause of primary hyperoxaluria type I (PH1) (MIM:259900); also known as oxalosis I. PH1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract.
}}

{{omim
|id=604285
|rsnum=34116584
|variant=0002
}}

{{ClinVar
|rsid=34116584
|Reversed=0
|FwdREF=C
|FwdALT=A,G,T
|REF=C
|ALT=A,G,T
|RSPOS=241808314
|CHROM=2
|GMAF=0.1081
|dbSNPBuildID=126
|SSR=0
|SAO=0
|VP=0x050368000000150516110100
|GENEINFO=AGXT:189
|GENE_NAME=AGXT
|GENE_ID=189
|WGT=0
|VC=SNV
|CLNALLE=3
|CLNHGVS=NC_000002.11:g.241808314C>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604285.0002; 604285.0011
|CLNSIG=5
|CLNCUI=C0268164
|CLNDBN=Primary hyperoxaluria, type I
|Disease=Primary hyperoxaluria
|CLNACC=RCV000005995.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.8916; 0.1084
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1283:C0268164:259900:416:93598:65520001
|COMMON=1
}}

{{GET Evidence
|gene=AGXT
|aa_change=Pro11Leu
|aa_change_short=P11L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34116584
|overall_frequency_n=1640
|overall_frequency_d=10748
|overall_frequency=0.152587
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.997
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=4
|n_web_uneval=8
}}

{{PMID Auto
|PMID=22868256
|Title=A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}