{{Rsnum
|rsid=376595844
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=IFT122
|position=129461309
|Gene_s=IFT122
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=3
|CLNACC=RCV000004900.2
|CLNALLE=1
|CLNDBN=Cranioectodermal dysplasia 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154653:C0432235:218330:1515:254093009
|CLNHGVS=NC_000003.11:g.129180152G>A
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK154653; 606045.0003
|Disease=Cranioectodermal dysplasia 1
|FwdALT=A
|FwdREF=G
|GENEINFO=IFT122:55764
|GENE_ID=55764
|GENE_NAME=IFT122
|REF=G
|RSPOS=129180152
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=376595844
}}