TCOF1 Chromosome 5
Treacle ribosome biogenesis factor 1
Upload your DNA to see your personal genotypes for variants in TCOF1.
What This Gene Does
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Gene Info
Gene Group
Ribosomal biogenesis factors
Locus Type
gene with protein product
Location
5q32-q33.1
Ensembl
ENSG00000070814
Associated Conditions (8)
Treacher Collins syndrome 1
Inborn genetic diseases
Cleft lip/palate
TCOF1-related disorder
Microcephaly
Hearing impairment
Ehlers-Danlos syndrome
Treacher Collins syndrome
Key Variants
RS112144548
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Treacher Collins syndrome 1
Health Risk
RS112227999
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Cleft lip/palate
Health Risk
RS112332762
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, TCOF1-related disorder
Health Risk
RS1160403859
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Treacher Collins syndrome 1
Health Risk
RS140126499
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Treacher Collins syndrome 1
Health Risk
RS140440910
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Treacher Collins syndrome 1
Health Risk
RS141095369
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Treacher Collins syndrome 1
Health Risk
RS142477153
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Treacher Collins syndrome 1
Health Risk
RS145365677
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Treacher Collins syndrome 1
Health Risk
RS146226591
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Treacher Collins syndrome 1
Health Risk
RS146307766
Conflicting classifications of pathogenicity
Treacher Collins syndrome 1, Inborn genetic diseases, Treacher Collins syndrome 1
Health Risk
RS146405751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Treacher Collins syndrome 1, Inborn genetic diseases
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2150714943 | Health Risk | Pathogenic | — |
| RS2150715791 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150716827 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150726644 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150734334 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150736647 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150816107 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150816737 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2150820128 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2151009927 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2151060146 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2151102857 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2151105953 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2151108410 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2532514925 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2532820625 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533073814 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533129531 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533363651 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533364557 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533419390 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533457151 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533458182 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533510482 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533515258 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533516925 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533519249 | Health Risk | Pathogenic | Treacher Collins syndrome 1, TCOF1-related disorder, Treacher Collins syndrome 1 |
| RS2533532311 | Health Risk | Pathogenic | — |
| RS2533536617 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533645355 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533653403 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533671671 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533691917 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533700327 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534121996 | Health Risk | Pathogenic | TCOF1-related disorder, TCOF1-related disorder |
| RS2534125699 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534214205 | Health Risk | Pathogenic | — |
| RS2534215438 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534305480 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534375369 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534375609 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534376553 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534378234 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534523712 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534526371 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534527721 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534528339 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534537041 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS35868965 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS587776580 | Health Risk | Pathogenic | Treacher Collins syndrome 1, Treacher Collins syndrome 1 |