LY6H

Chr 8

lymphocyte antigen 6 family member H

Also known as: NMLY6

NCBI Gene: 4062ENSG00000176956UniProt: O94772

Predicted to enable acetylcholine receptor binding activity and acetylcholine receptor inhibitor activity. Predicted to be involved in acetylcholine receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
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?
1.00LOEUF
pLI 0.168
Z-score 1.58
OE 0.32 (0.13–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.61Z-score
OE missense 0.81 (0.67–1.00)
67 obs / 82.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.13–1.00)
0≤0.351.4
Missense OE?0.81 (0.67–1.00)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 2 / 6.3Missense obs/exp: 67 / 82.5Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LY6H · 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