POLR1C Chromosome 6
RNA polymerase I and III subunit C
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What This Gene Does
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000171453
Associated Conditions (5)
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Hearing impairment
Inborn genetic diseases
POLR1C-related disorder
Key Variants
RS1015942660
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
Health Risk
RS1202078132
Conflicting classifications of pathogenicity
Health Risk
RS141471029
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Hearing impairment, Inborn genetic diseases
Health Risk
RS144054843
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
Health Risk
RS145813943
Conflicting classifications of pathogenicity
Treacher Collins syndrome 3, POLR1C-related disorder, Treacher Collins syndrome 3
Health Risk
RS148385032
Conflicting classifications of pathogenicity
Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11, POLR1C-related disorder
Health Risk
RS149840242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1793020065
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
Health Risk
RS181576159
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
Health Risk
RS185499373
Conflicting classifications of pathogenicity
Treacher Collins syndrome 3, Treacher Collins syndrome 3
Health Risk
RS187997427
Conflicting classifications of pathogenicity
Treacher Collins syndrome 3, Treacher Collins syndrome 3
Health Risk
RS200115914
Conflicting classifications of pathogenicity
Treacher Collins syndrome 3, Inborn genetic diseases, Treacher Collins syndrome 3
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141156009 | Health Risk | Pathogenic/Likely pathogenic | Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3 |
| RS1561856961 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11 |
| RS1793021342 | Health Risk | Pathogenic/Likely pathogenic | Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3 |
| RS191582628 | Health Risk | Pathogenic/Likely pathogenic | Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11, POLR1C-related disorder |
| RS751006626 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11 |
| RS767639108 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11 |
| RS770637715 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11 |
| RS780663139 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11 |
| RS796052127 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, POLR1C-related disorder |
| RS886041661 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11 |