POLR3A Chromosome 10

RNA polymerase III subunit A
170 variants 170 Health Risk

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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
RS112788477 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS1211210077 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS1248039821 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1253822191 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS138305578 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1399429058 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome
RS140901011 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS141484643 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, hypomyelinating
RS142834115 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS1428468560 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS143461869 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS144576999 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS146055367 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS146861723 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS149184216 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149961298 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS151084236 Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
RS1847342207 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS1847395828 Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
RS184961157 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS186927032 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS199733994 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS200118797 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS201314157 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS201700756 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS201709900 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS201733323 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS201875398 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS267608668 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS267608673 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS369684554 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS371703979 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS372788440 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS373306216 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS373974792 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS374831450 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS375882550 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS376895980 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS41274600 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS41274610 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS535797845 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS544204280 Health Risk Conflicting classifications of pathogenicity —
RS569766176 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS747257894 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, Leukodystrophy
RS755165065 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS756953635 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS757209071 Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, POLR3A-related disorder
RS757277769 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS757615089 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating, 7
RS757718124 Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
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