POLA1 Chromosome X
DNA polymerase alpha 1, catalytic subunit
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What This Gene Does
This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
Xp22.11-p21.3
Ensembl
ENSG00000101868
Associated Conditions (9)
Inborn genetic diseases
Agammaglobulinemia
X-linked intellectual disability
van Esch type
X-linked reticulate pigmentary disorder
Inherited aplastic anemia
Thyroid cancer
nonmedullary
1
Key Variants
RS1165699664
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1307618098
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1370486222
Conflicting classifications of pathogenicity
Health Risk
RS139024287
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146743254
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1472724099
Conflicting classifications of pathogenicity
Agammaglobulinemia, Inborn genetic diseases, Agammaglobulinemia
Health Risk
RS200968329
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2148341850
Conflicting classifications of pathogenicity
X-linked intellectual disability, van Esch type, X-linked intellectual disability
Health Risk
RS367639262
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370848887
Conflicting classifications of pathogenicity
Health Risk
RS370956790
Conflicting classifications of pathogenicity
Health Risk
RS376350416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1165699664 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1307618098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1370486222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139024287 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146743254 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1472724099 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia, Inborn genetic diseases, Agammaglobulinemia |
| RS200968329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2148341850 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS367639262 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370848887 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370956790 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376350416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS41548013 | Health Risk | Conflicting classifications of pathogenicity | X-linked reticulate pigmentary disorder, X-linked reticulate pigmentary disorder |
| RS757008969 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759425597 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765798973 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767564863 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770629363 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771537551 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773963015 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776272149 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778407882 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778454003 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778776585 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS779545243 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779569608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1930638172 | Health Risk | Likely pathogenic | Inherited aplastic anemia, Inherited aplastic anemia |
| RS2518693616 | Health Risk | Likely pathogenic | Inherited aplastic anemia, Inherited aplastic anemia |
| RS2518817148 | Health Risk | Likely pathogenic | Inherited aplastic anemia, Inherited aplastic anemia |
| RS774419889 | Health Risk | Likely pathogenic | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS1569271378 | Health Risk | Pathogenic | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS1569271892 | Health Risk | Pathogenic | X-linked intellectual disability, van Esch type, Thyroid cancer |
| RS1569277866 | Health Risk | Pathogenic | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS1569277899 | Health Risk | Pathogenic | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS1569350993 | Health Risk | Pathogenic | X-linked intellectual disability, van Esch type, X-linked intellectual disability |
| RS869312979 | Health Risk | Pathogenic | X-linked reticulate pigmentary disorder, X-linked reticulate pigmentary disorder |