{{Rsnum
|rsid=80338686
|Chromosome=3
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=BTD
|position=15645468
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BTD
}}{{omim
|id=609019
|rsnum=80338686
|variant=0003
}}{{ClinVar
|rsid=80338686
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=15686975
|CHROM=3
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=BTD:686
|GENE_NAME=BTD
|GENE_ID=686
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.15686975C>T
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=6037; NBK1322; 609019.0003
|CLNSIG=5
|CLNCUI=C0220754; C0220754; C0220754
|CLNDBN=Biotinidase deficiency; not provided
|Disease=Biotinidase deficiency; not provided
|CLNACC=RCV000001975.1; RCV000078070.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1322:C0220754:253260:79241:8808004
}}{{PMID Auto
|PMID=9099842
|Title=Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
}}