CLSPN-DT

Chr 1

CLSPN divergent transcript

I cannot provide a clinical gene summary for CLSPN-DT because no functional or clinical information has been provided in the data below this request. To write an accurate summary about what the protein does, associated diseases, and inheritance patterns, I would need specific information about this gene's function, associated phenotypes, and genetic characteristics.

Clinical SummaryCLSPN-DT
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ClinVar Variants
3 unique Pathogenic / Likely Pathogenic of 3 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

Classification Summary

Pathogenic1
Likely Pathogenic2
1
Pathogenic
2
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
Likely Pathogenic
2
VUS
0
Likely Benign
0
Benign
0
Total3

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CLSPN-DT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found