POLR1C

Chr 6

RNA polymerase I and III subunit C

Also known as: AC40, HLD11, RPA39, RPA40, RPA5, RPAC1, RPC40, TCS3

NCBI Gene: 9533ENSG00000171453UniProt: O15160

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTreacher Collins syndrome 3
UniProtLeukodystrophy, hypomyelinating, 11

Clinical highlights

Gene-disease validity (ClinGen)
Treacher Collins syndrome 3 · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.40
LOEUF
LOF
Mechanism· G2P
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GeneReview available — POLR1C
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.000
Z-score 0.34
OE 0.91 (0.61–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.44Z-score
OE missense 1.29 (1.16–1.43)
252 obs / 195.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.61–1.40)
0≤0.351.4
Missense OE?1.29 (1.16–1.43)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 15 / 16.5Missense obs/exp: 252 / 195.2Syn Z: -1.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POLR1C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients