CTB-30L5.1
Chr 7uncharacterized CTB-30L5.1
6
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CTB-30L5.1
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 1 VUS of 6 total submissions
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
6 submitted variants in ClinVar
Classification Summary
Pathogenic5
VUS1
5
Pathogenic
1
VUS
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 5 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 6 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CTB-30L5.1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Literature
Landmark / reviewRecent case evidence
No publications found for CTB-30L5.1
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools