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
62e2f4e53e978a0e24deeaf7- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
39554508PubMed- Title
- Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
- Journal
- Frontiers in medicine
- Year
- 2024
- DOI
- 10.3389/fmed.2024.1480947
- PMC
PMC11565434PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ALPK3
- Query variant
NM_020778.5:c.5114G>A- Normalized c.HGVS
- c.5114G>A
- Normalized p.HGVS
- p.(Arg1705Gln)
- Representative genomic HGVS
- CM000677.1:g.85411683G>A
- Genomic HGVS aliases
- CM000677.1:g.85411683G>A; CM000677.2:g.84868452G>A; NC_000015.10:g.84868452G>A; NC_000015.8:g.83212687G>A; NC_000015.9:g.85411683G>A; NG_054748.1:g.56822G>A
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
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- Yes
- PM3 context
- Patient-level evidence found, not PM3
- PM3 evidence items
- 0
- Allelic configuration type
- Other patient-level evidence
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
- Candidate context retained: 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 0
- Table candidate windows
- 1
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- Target validation
- Target variant matched with other patient-level evidence
Source provenance
- Reviewed source
- Main article and supplement
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- Expanded audit context
- Evidence location
- Main+Supp
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.