BOLA2-SMG1P6
Chr 16BOLA2-SMG1P6 readthrough
This gene represents a readthrough transcript between BOLA2 and the SMG1P6 pseudogene that may encode proteins with an N-terminus similar to BOLA2 (involved in iron-sulfur cluster assembly) and a C-terminus related to SMG1 kinase. No definitive disease associations have been established for mutations in this readthrough transcript. The clinical significance and inheritance pattern of variants in this transcript remain unclear.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
30 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 | — | — | — | — | 25 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 30 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BOLA2-SMG1P6 · 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