Record detail
One row in GLEAM-DB is one paper (PubMed) × one query variant. This page shows structured labels and provenance for that record, not a final variant classification.
Record identity
- Record ID
2a3d755fd8f15cd01be4c1da- Release version
- v1.0
- PMID
40628291PubMed- Title
- PIEZO1 variant implications for biological understanding and human health.
- Journal
- Open biology
- Year
- 2025
- PMC
PMC12308237PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- PIEZO1
- Query variant
NM_001142864.4:c.4027GAG[1]- Normalized c.HGVS
- c.4027GAG[1]
- Normalized p.HGVS
- p.(Glu1344del)
- Representative genomic HGVS
- CM000678.1:g.88792032_88792034del
- Genomic HGVS aliases
- CM000678.1:g.88792032_88792034del; CM000678.2:g.88725624_88725626del; NC_000016.10:g.88725624_88725626del; NC_000016.8:g.87319533_87319535del; NC_000016.9:g.88792032_88792034del; NG_042229.1:g.64598_64600del
CoGenEx-PM3 evidence
Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.
- Evidence status
- Other Patient-Level Evidence
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- Yes
- PM3 context
- No PM3 candidate genotype identified
- PM3 evidence items
- 0
- Allelic configuration type
- No PM3 candidate genotype identified
No retained PM3 partner variant was recorded for this PMID × variant pair.
Candidate context and target validation
Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.
- Candidate context
- No candidate context window was retained
- Context status
- Found in final retained audit context
- Text candidate windows
- 0
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- Yes
- Target validation
- Not recorded
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- Primary audit context
- Evidence location
- Main article
Source links and copyright boundary
Use the PMID, PMC and DOI links above to inspect the source publication where access is permitted. GLEAM-DB redistributes structured metadata, evidence labels and provenance fields only; it does not redistribute copyrighted full text, supplementary tables, copied source tables, long evidence contexts, raw source documents, raw LLM outputs or internal processing logs.