CHKB-CPT1B
Chr 22CHKB-CPT1B readthrough (NMD candidate)
Also known as: CHKL-CPT1B, CPT1-M, CPT1B, CPTI-M
CHKB-CPT1B represents read-through transcripts from adjacent genes CHKB and CPT1B on chromosome 22 that are candidates for nonsense-mediated mRNA decay and unlikely to produce functional proteins. No disease associations have been established for this read-through transcript, as pathogenic variants would be expected to affect the individual CHKB or CPT1B genes rather than the read-through product.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
452 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 | 21 | 0 | 45 | 0 | 66 |
Likely Pathogenic | 9 | 0 | 0 | 0 | 9 |
VUS | 3 | 218 | 9 | 1 | 231 |
Likely Benign | 0 | 4 | 65 | 58 | 127 |
Benign | 0 | 1 | 13 | 1 | 15 |
Conflicting | — | 1 | |||
| Total | 33 | 223 | 132 | 60 | 449 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CHKB-CPT1B · 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