{{Rsnum
|rsid=104894177
|Chromosome=10
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PCBD1
|position=70884021
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PCBD1
}}{{omim
|id=126090
|rsnum=104894177
|variant=0002
}}{{ClinVar
|rsid=104894177
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=72643778
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PCBD1:5092
|GENE_NAME=PCBD1
|GENE_ID=5092
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.72643778A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126090.0002
|CLNSIG=5
|CLNCUI=C1849700
|CLNDBN=Hyperphenylalaninemia, bh4-deficient, d
|Disease=Hyperphenylalaninemia
|CLNACC=RCV000018287.26
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1849700:264070:1578:238583
}}