{{Rsnum
|rsid = 28941769
|Gene = TCOF1
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|Chromosome=5
|position=150361196
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TCOF1
}}{{omim
|desc=TREACHER COLLINS SYNDROME
|id=606847
|rsnum=28941769
|variant=0005
}}{{ClinVar
|rsid=28941769
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=149740759
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=TCOF1:6949
|GENE_NAME=TCOF1
|GENE_ID=6949
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.149740759A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606847.0005
|CLNSIG=5
|CLNCUI=C0242387
|CLNDBN=Treacher Collins syndrome
|Disease=Treacher Collins syndrome
|CLNACC=RCV000004170.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1532:C0242387:154500:82203000
}}

{{on chip | 23andMe v4}}