POLR1A Chromosome 2
RNA polymerase I subunit A
Upload your DNA to see your personal genotypes for variants in POLR1A.
What This Gene Does
The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000068654
Associated Conditions (6)
Acrofacial dysostosis Cincinnati type
Inborn genetic diseases
POLR1A-related disorder
Leukodystrophy
hypomyelinating
27
Key Variants
RS1064794956
Conflicting classifications of pathogenicity
Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
Health Risk
RS142266408
Conflicting classifications of pathogenicity
Acrofacial dysostosis Cincinnati type, Inborn genetic diseases, Acrofacial dysostosis Cincinnati type
Health Risk
RS1472458142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183490100
Conflicting classifications of pathogenicity
POLR1A-related disorder, Inborn genetic diseases, POLR1A-related disorder
Health Risk
RS188057926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS191928354
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199858437
Conflicting classifications of pathogenicity
Inborn genetic diseases, Leukodystrophy, hypomyelinating
Health Risk
RS200512758
Conflicting classifications of pathogenicity
Acrofacial dysostosis Cincinnati type, Leukodystrophy, hypomyelinating
Health Risk
RS200735610
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200880797
Conflicting classifications of pathogenicity
Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
Health Risk
RS201757205
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370722814
Conflicting classifications of pathogenicity
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794956 | Health Risk | Conflicting classifications of pathogenicity | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS142266408 | Health Risk | Conflicting classifications of pathogenicity | Acrofacial dysostosis Cincinnati type, Inborn genetic diseases, Acrofacial dysostosis Cincinnati type |
| RS1472458142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS183490100 | Health Risk | Conflicting classifications of pathogenicity | POLR1A-related disorder, Inborn genetic diseases, POLR1A-related disorder |
| RS188057926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191928354 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199858437 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Leukodystrophy, hypomyelinating |
| RS200512758 | Health Risk | Conflicting classifications of pathogenicity | Acrofacial dysostosis Cincinnati type, Leukodystrophy, hypomyelinating |
| RS200735610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200880797 | Health Risk | Conflicting classifications of pathogenicity | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS201757205 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370722814 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376902057 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376999911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756716111 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765871501 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773549641 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776089249 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776511562 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS80106112 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064795108 | Health Risk | Likely pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS2466502156 | Health Risk | Likely pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS768779433 | Health Risk | Likely pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS1377622831 | Health Risk | Pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS794729674 | Health Risk | Pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |
| RS875989814 | Health Risk | Pathogenic | Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type |