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
b7ba0c5de3c902f017452cf5- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
40159620PubMed- Title
- Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.
- Journal
- European journal of neurology
- Year
- 2025
- DOI
- 10.1111/ene.70109
- PMC
PMC11955412PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- RYR1
- Query variant
NM_000540.3:c.14387A>G- Normalized c.HGVS
- c.14387A>G
- Normalized p.HGVS
- p.(Tyr4796Cys)
- Representative genomic HGVS
- CM000681.1:g.39070644A>G
- Genomic HGVS aliases
- CM000681.1:g.39070644A>G; CM000681.2:g.38580004A>G; LRG_766:g.151305A>G; NC_000019.10:g.38580004A>G; NC_000019.8:g.43762484A>G; NC_000019.9:g.39070644A>G; 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
- Phase-unconfirmed biallelic evidence
- Query-evidence confidence
-
Needs review
Llm Review Not Conclusive For Removal
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 1
- Allelic configuration type
- Homozygous 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 text window
- Context status
- Found in final retained audit context
- Text candidate windows
- 1
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with phase-unconfirmed biallelic evidence
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- BioC 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.