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
177b1ba82db7e973ca1613c1- 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
- MYPN
- Query variant
NM_032578.4:c.3335C>A- Normalized c.HGVS
- c.3335C>A
- Normalized p.HGVS
- p.(Pro1112His)
- Representative genomic HGVS
- CM000672.1:g.69959174C>A
- Genomic HGVS aliases
- CM000672.1:g.69959174C>A; CM000672.2:g.68199417C>A; LRG_410:g.98301C>A; NC_000010.10:g.69959174C>A; NC_000010.11:g.68199417C>A; NC_000010.9:g.69629180C>A; and 1 more
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
-
Needs review
Llm Review Not Conclusive For Removal
- 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: 2 text windows and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 2
- Table candidate windows
- 2
- Target c.HGVS validated
- No
- Target p.HGVS validated
- Yes
- 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
- Primary 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.