{{Rsnum
|rsid=121917816
|Chromosome=5
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=AMACR
|position=34005827
|Gene_s=AMACR,MIR4324
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=121917816
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=34005932
|CHROM=5
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=C1QTNF3-AMACR:100534612; AMACR:23600
|GENE_NAME=C1QTNF3-AMACR; AMACR
|GENE_ID=100534612; 23600
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.34005932A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=604489.0002
|CLNSIG=5
|CLNCUI=C1858328
|CLNDBN=Bile acid synthesis defect, congenital, 4
|Disease=Bile acid synthesis defect
|CLNACC=RCV000005860.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1858328:214950:79095
}}