SLC9A3-OT1
Chr 5SLC9A3 3' UTR overlapping transcript 1
Also known as: PP7080
This gene encodes a long non-coding RNA that regulates expression of the SLC9A3 sodium-hydrogen exchanger. Based on the provided data, this gene appears highly tolerant to loss-of-function variants with very low constraint scores, but no specific diseases or inheritance patterns associated with SLC9A3-OT1 mutations are included in the available information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
70 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 57 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 2 |
| Total | — | 70 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC9A3-OT1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools