SOX1-OT
Chr 13SOX1 overlapping transcript
Also known as: LINC00403, uc.357
I cannot provide a clinical gene summary for SOX1-OT as no functional or clinical information has been provided in the data below this prompt. Without details about the protein function, associated diseases, inheritance pattern, or clinical phenotypes, I cannot write an accurate clinical summary that meets the specified requirements.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
138 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 47 | 0 | 47 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 74 | 1 | 0 | 75 |
Likely Benign | 0 | 1 | 5 | 5 | 11 |
Benign | 0 | 0 | 1 | 3 | 4 |
| Total | 0 | 75 | 55 | 8 | 138 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SOX1-OT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
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