{{Rsnum
|rsid=312262895
|Chromosome=X
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AAAAGAC)
|geno3=(AAAAGAC;AAAAGAC)
|Gene=OFD1
|position=13768137
|Gene_s=OFD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=X
|CLNACC=RCV000012300.14; RCV000034005.2
|CLNALLE=1
|CLNDBN=Joubert syndrome 10; Oral-facial-digital syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1325:C2749019:300804:2754; NBK1188:C1510460:311200:2750:52868006
|CLNHGVS=NC_000023.10:g.13786256_13786262delAAAAGAC
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1188; 300170.0008
|Disease=Joubert syndrome 10; Oral-facial-digital syndrome
|FwdREF=AAAAGAC
|REF=TAAAAGAC
|RSPOS=13786255
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=312262895
|GENEINFO=OFD1:8481
|GENE_ID=8481
|GENE_NAME=OFD1
}}{{PMID Auto
|PMID=19800048
|Title=OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
|OA=1
}}