{{Rsnum
|rsid=312262861
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=OFD1
|position=13753366
|Gene_s=OFD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G,T
|CHROM=X
|CLNACC=RCV000033952.2
|CLNALLE=2
|CLNDBN=Oral-facial-digital syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1188:C1510460:311200:2750:52868006
|CLNHGVS=NC_000023.10:g.13771485A>T
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1188
|Disease=Oral-facial-digital syndrome
|FwdALT=G,T
|FwdREF=A
|REF=A
|RSPOS=13771485
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=312262861
|GENEINFO=OFD1:8481
|GENE_ID=8481
|GENE_NAME=OFD1
}}{{PMID Auto
|PMID=18546297
|Title=Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
}}