LCE1C

Chr 1

late cornified envelope 1C

Also known as: LEP3

NCBI Gene: 353133ENSG00000197084UniProt: Q5T751OMIM: 612605

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

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.028
Z-score 0.12
OE 0.91 (0.34–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.57Z-score
OE missense 1.20 (1.00–1.44)
80 obs / 66.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.34–1.86)
0≤0.351.4
Missense OE?1.20 (1.00–1.44)
0≤0.61.4
Synonymous OE?1.95
0≤1.21.6
LoF obs/exp: 2 / 2.2Missense obs/exp: 80 / 66.8Syn Z: -3.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE1C · 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