POLR1D Chromosome 13
RNA polymerase I and III subunit D
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What This Gene Does
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
13q12.2
Ensembl
ENSG00000186184
Associated Conditions (3)
Treacher Collins syndrome 2
POLR1D-related disorder
Treacher Collins syndrome
Key Variants
RS138256149
Conflicting classifications of pathogenicity
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS144597856
Conflicting classifications of pathogenicity
POLR1D-related disorder, POLR1D-related disorder
Health Risk
RS1555271298
Likely pathogenic
Health Risk
RS1593275599
Likely pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS2500474235
Likely pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS2500474424
Likely pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS2500474635
Likely pathogenic
POLR1D-related disorder, POLR1D-related disorder
Health Risk
RS2500475304
Likely pathogenic
POLR1D-related disorder, POLR1D-related disorder
Health Risk
RS767196650
Likely pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS1555271308
Pathogenic
Health Risk
RS1593275363
Pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
RS1593275448
Pathogenic
Treacher Collins syndrome 2, Treacher Collins syndrome 2
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138256149 | Health Risk | Conflicting classifications of pathogenicity | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS144597856 | Health Risk | Conflicting classifications of pathogenicity | POLR1D-related disorder, POLR1D-related disorder |
| RS1555271298 | Health Risk | Likely pathogenic | — |
| RS1593275599 | Health Risk | Likely pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS2500474235 | Health Risk | Likely pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS2500474424 | Health Risk | Likely pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS2500474635 | Health Risk | Likely pathogenic | POLR1D-related disorder, POLR1D-related disorder |
| RS2500475304 | Health Risk | Likely pathogenic | POLR1D-related disorder, POLR1D-related disorder |
| RS767196650 | Health Risk | Likely pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS1555271308 | Health Risk | Pathogenic | — |
| RS1593275363 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS1593275448 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS1593275616 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS2138518600 | Health Risk | Pathogenic | — |
| RS2138519077 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS2138519194 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome 2 |
| RS587777841 | Health Risk | Pathogenic | Treacher Collins syndrome 2, Treacher Collins syndrome, Treacher Collins syndrome 2 |