SCNN1D

Chr 1

sodium channel epithelial 1 subunit delta

Also known as: ENaCd, ENaCdelta, SCNED, dNaCh

NCBI Gene: 6339ENSG00000162572UniProt: P51172

Contributes to sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.59
LOEUF
GOF
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?
1.59LOEUF
pLI 0.000
Z-score -1.33
OE 1.24 (0.97–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.78Z-score
OE missense 1.10 (1.02–1.18)
526 obs / 477.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.24 (0.97–1.59)
0≤0.351.4
Missense OE?1.10 (1.02–1.18)
0≤0.61.4
Synonymous OE?1.34
0≤1.21.6
LoF obs/exp: 45 / 36.4Missense obs/exp: 526 / 477.9Syn Z: -3.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCNN1D · 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