LSMEM1

Chr 7

leucine rich single-pass membrane protein 1

Also known as: C7orf53

NCBI Gene: 286006ENSG00000181016UniProt: Q8N8F7

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.82
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?
1.82LOEUF
pLI 0.000
Z-score -0.05
OE 1.03 (0.52–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.20Z-score
OE missense 1.07 (0.89–1.29)
75 obs / 70.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.03 (0.52–1.82)
0≤0.351.4
Missense OE?1.07 (0.89–1.29)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 5 / 4.9Missense obs/exp: 75 / 70.2Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LSMEM1 · 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