{{Rsnum
|rsid=15251
|Gene=TCOF1
|Chromosome=5
|position=150396669
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2144
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TCOF1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 56.6 | 32.7 | 10.6
| HCB | 64.2 | 31.4 | 4.4
| JPT | 63.7 | 27.4 | 8.8
| YRI | 92.5 | 7.5 | 0.0
| ASW | 82.5 | 17.5 | 0.0
| CHB | 64.2 | 31.4 | 4.4
| CHD | 67.0 | 30.3 | 2.8
| GIH | 33.7 | 49.5 | 16.8
| LWK | 90.0 | 10.0 | 0.0
| MEX | 56.9 | 31.0 | 12.1
| MKK | 85.3 | 13.5 | 1.3
| TSI | 35.3 | 55.9 | 8.8
| HapMapRevision=28
}}{{PMID|18688869|OA=1
}} [[rs2255796]] and [[rs15251]] suggested excess maternal transmission and may influence risk of cleft palate

{{Venter SNP
|rsid=15251
|allele=T
|frequency=0.233
|uid=1103654256557
|type=heterozygous_SNP
|hugo=TCOF1
|ensembl gene=ENSG00000070814
|ensembl transcript=ENST00000323668
|sift=
|disease=Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) (MIM:154500). TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.
}}

{{GET Evidence
|gene=TCOF1
|aa_change=Ala1352Val
|aa_change_short=A1352V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs15251
|overall_frequency_n=30
|overall_frequency_d=128
|overall_frequency=0.234375
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=20
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}