CHKB-CPT1B

Chr 22

CHKB-CPT1B readthrough (NMD candidate)

NCBI Gene: 386593ENSG00000254413
651
ClinVar variants
34
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CHKB-CPT1B
📋
ClinVar Variants
34 Pathogenic / Likely Pathogenic· 223 VUS of 651 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

651 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic9
VUS223
Likely Benign110
Benign14
Conflicting16
25
Pathogenic
9
Likely Pathogenic
223
VUS
110
Likely Benign
14
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
12
1
12
0
25
Likely Pathogenic
7
0
2
0
9
VUS
2
207
13
1
223
Likely Benign
0
5
55
50
110
Benign
0
1
13
0
14
Conflicting
—16
Total212149551397

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.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools