OR10A7

Chr 12

olfactory receptor family 10 subfamily A member 7

Also known as: OR12-6

NCBI Gene: 121364ENSG00000179919UniProt: Q8NGE5

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted
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?
0.87LOEUF
pLI 0.438
Z-score 1.76
OE 0.18 (0.07–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.04Z-score
OE missense 1.23 (1.09–1.38)
204 obs / 166.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.18 (0.07–0.87)
0≤0.351.4
Missense OE?1.23 (1.09–1.38)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 1 / 5.4Missense obs/exp: 204 / 166.3Syn Z: -1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR10A7 · 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