SND1-IT1
Chr 7SND1 intronic transcript 1
Also known as: C7orf54, NAG8, NSG-X
9
ClinVar variants
8
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SND1-IT1
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic of 9 total submissions
Some data sources returned errors (2)
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
9 submitted variants in ClinVar
Classification Summary
Pathogenic8
Likely Benign1
8
Pathogenic
1
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 8 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 9 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SND1-IT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Deciphering the role of cuproptosis-related lncRNAs in shaping the lung cancer immune microenvironment: A comprehensive prognostic model.
Huang H et al.·J Cell Mol Med
2024Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
lncRNA SND1-IT1/miR-494-3p regulation in ox-LDL-induced endothelial cell injury: novel insights into coronary heart disease pathogenesis and diagnostic biomarkers.
Song Y et al.·Eur J Med Res
2026🔓 Open Access
lncRNA SND1-IT1 delivered via intracerebral hemorrhage-derived exosomes affect the growth of human microglia by regulating the miR-124-3p/MTF1 axis.
Wang J et al.·J Cell Physiol
2023
Exosome-mediated lncRNA SND1-IT1 from gastric cancer cells enhances malignant transformation of gastric mucosa cells via up-regulating SNAIL1.
Jin G et al.·J Transl Med
2022🔓 Open Access
LncRNA SND1-IT1 facilitates TGF-β1-induced epithelial-to-mesenchymal transition via miR-124/COL4A1 axis in gastric cancer.
Hu YZ et al.·Cell Death Discov
2022🔓 Open Access
Long non-coding RNA SND1-IT1 accelerates cell proliferation, invasion and migration via regulating miR-132-3p/SMAD2 axis in retinoblastoma.
Yin DF et al.·Bioengineered
2021🔓 Open Access
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)