CHKB-DT

Chr 22

CHKB divergent transcript

Also known as: CHKB-AS1, HRAT

NCBI Gene: 100144603ENSG00000205559
80
ClinVar variants
63
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CHKB-DT
📋
ClinVar Variants
63 Pathogenic / Likely Pathogenic· 5 VUS of 80 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
VUS5
Benign7
63
Pathogenic
5
VUS
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————63
Likely Pathogenic
————0
VUS
————5
Likely Benign
————0
Benign
————7
Total—75

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CHKB-DT · 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