GPC5-IT1
Chr 13GPC5 intronic transcript 1
I cannot provide a clinical summary for GPC5-IT1 as no information about protein function, associated diseases, or inheritance patterns was provided in the data. This appears to be an intervening transcript (based on the "-IT1" suffix), which typically indicates a non-coding RNA rather than a protein-coding gene.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
29 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 | — | — | — | — | 27 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 29 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GPC5-IT1 · 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