OR6C3

Chr 12

olfactory receptor family 6 subfamily C member 3

ENSG00000205329UniProt: Q9NZP0

Odorant receptor

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.68
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
1.68LOEUF
pLI 0.003
Z-score 0.43
OE 0.79 (0.39–1.68)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.37Z-score
OE missense 1.31 (1.17–1.47)
205 obs / 156.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.79 (0.39–1.68)
0≤0.351.4
Missense OE?1.31 (1.17–1.47)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 4 / 5.0Missense obs/exp: 205 / 156.9Syn Z: -1.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR6C3 · 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