POLR3A Chromosome 10
RNA polymerase III subunit A
Upload your DNA to see your personal genotypes for variants in POLR3A.
What This Gene Does
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000148606
Associated Conditions (22)
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
Neonatal pseudo-hydrocephalic progeroid syndrome
POLR3A-related disorder
Inborn genetic diseases
POLR3A-related neurological disorders
POLR-related leukodystrophy
Adult onset hereditary spastic paraplegia
Intellectual disability
Familial cancer of breast
Wiedemann-Rautenstrauch-like progeroid syndrome
Hypomyelinating leukodystrophy 4
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Acute myeloid leukemia
Spastic ataxia
Movement disorder
+2 more conditions
Key Variants
RS112788477
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS1211210077
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS1248039821
Conflicting classifications of pathogenicity
Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
Health Risk
RS1253822191
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS138305578
Conflicting classifications of pathogenicity
Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
Health Risk
RS1399429058
Conflicting classifications of pathogenicity
Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
Health Risk
RS140901011
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS141484643
Conflicting classifications of pathogenicity
Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, hypomyelinating
Health Risk
RS142834115
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS1428468560
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS143461869
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
RS144576999
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 7
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772904218 | Health Risk | Likely pathogenic | POLR3A-related disorder, POLR3A-related disorder |
| RS773370487 | Health Risk | Likely pathogenic | — |
| RS777345393 | Health Risk | Likely pathogenic | — |
| RS1211433401 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS1384567912 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1396054344 | Health Risk | Pathogenic | — |
| RS1420670406 | Health Risk | Pathogenic | — |
| RS1430601173 | Health Risk | Pathogenic | POLR-related leukodystrophy, POLR-related leukodystrophy |
| RS1437847867 | Health Risk | Pathogenic | — |
| RS1439465660 | Health Risk | Pathogenic | — |
| RS1462460124 | Health Risk | Pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, hypomyelinating |
| RS148932047 | Health Risk | Pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, POLR3A-related disorder |
| RS1564623882 | Health Risk | Pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome |
| RS1589310432 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS1847352468 | Health Risk | Pathogenic | — |
| RS1847364209 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS1847443896 | Health Risk | Pathogenic | — |
| RS1847583387 | Health Risk | Pathogenic | — |
| RS1847584312 | Health Risk | Pathogenic | — |
| RS2131926804 | Health Risk | Pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome |
| RS2131930706 | Health Risk | Pathogenic | — |
| RS2131943863 | Health Risk | Pathogenic | — |
| RS2131945763 | Health Risk | Pathogenic | — |
| RS2131950092 | Health Risk | Pathogenic | — |
| RS2131956457 | Health Risk | Pathogenic | — |
| RS2131961013 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS2131961978 | Health Risk | Pathogenic | — |
| RS2493206502 | Health Risk | Pathogenic | — |
| RS2493207946 | Health Risk | Pathogenic | — |
| RS2493209430 | Health Risk | Pathogenic | — |
| RS2493220203 | Health Risk | Pathogenic | — |
| RS2493231161 | Health Risk | Pathogenic | — |
| RS267608674 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS267608678 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS267608679 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS267608681 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS546487084 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS760408755 | Health Risk | Pathogenic | — |
| RS769391875 | Health Risk | Pathogenic | Leukodystrophy, Leukodystrophy |
| RS769791060 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS777280350 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS886041636 | Health Risk | Pathogenic | — |
| RS928051665 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS995590193 | Health Risk | Pathogenic | — |
| RS115020338 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS1168641193 | Health Risk | Pathogenic/Likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, hypomyelinating |
| RS1292401633 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, Leukodystrophy |
| RS1337528878 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, Leukodystrophy |
| RS1378008503 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 7 |
| RS141659018 | Health Risk | Pathogenic/Likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome, Leukodystrophy |