{{Rsnum
|rsid=386833858
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=BCS1L
|position=218662973
|Gene_s=BCS1L
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=2
|CLNACC=RCV000049827.1
|CLNALLE=1
|CLNDBN=GRACILE syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864002:603358:53693
|CLNHGVS=NC_000002.11:g.219527696T>C
|CLNSIG=4
|Disease=GRACILE syndrome
|FwdALT=C
|FwdREF=T
|REF=T
|RSPOS=219527696
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833858
|GENEINFO=BCS1L:617
|GENE_ID=617
|GENE_NAME=BCS1L
}}{{PMID Auto
|PMID=12215968
|Title=GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
|OA=1
}}