{{Rsnum
|rsid=80338685
|Gene=BTD
|Chromosome=3
|position=15645224
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=BTD
}}{{omim
|id=609019
|rsnum=80338685
|variant=0007
}}{{ClinVar
|rsid=80338685
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=15686731
|CHROM=3
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040016110100
|GENEINFO=BTD:686
|GENE_NAME=BTD
|GENE_ID=686
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.15686731A>C
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=178; NBK1322; 609019.0007
|CLNSIG=5
|CLNCUI=C0220754; C0220754; C0220754
|CLNDBN=Biotinidase deficiency; not provided
|Disease=Biotinidase deficiency; not provided
|CLNACC=RCV000001979.1; RCV000078065.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1322:C0220754:253260:79241:8808004
|COMMON=0
}}{{PMID Auto
|PMID=9375914
|Title=Profound biotinidase deficiency in two asymptomatic adults.
}}

{{PMID Auto
|PMID=10400129
|Title=Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
}}

{{PMID Auto
|PMID=10801053
|Title=Novel mutations cause biotinidase deficiency in Turkish children.
}}