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
7fe7b7e3061d1ecb7e894044- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
41813186PubMed- Title
- [A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].
- Journal
- Rinsho shinkeigaku = Clinical neurology
- Year
- 2026
- DOI
- 10.5692/clinicalneurol.cn-002096
- PMC
- Not available
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- PLA2G6
- Query variant
NM_003560.4:c.991G>A- Normalized c.HGVS
- Not available
- Normalized p.HGVS
- Not available
- Representative genomic HGVS
- CM000684.1:g.38528924C>T
- Genomic HGVS aliases
- CM000684.1:g.38528924C>T; CM000684.2:g.38132917C>T; NC_000022.10:g.38528924C>T; NC_000022.11:g.38132917C>T; NC_000022.9:g.36858870C>T; NG_007094.2:g.77774G>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
- No PM3 Evidence Identified
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- Unknown
- Phase-unconfirmed biallelic evidence
- Unknown
- Other patient-level evidence
- Unknown
- 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
- Candidate context could not be fully assessed
- Context status
- No retained audit row
- Text candidate windows
- 0
- Table candidate windows
- 0
- Target c.HGVS validated
- Unknown
- Target p.HGVS validated
- Unknown
- Target validation
- Limited by source availability or processing status
Source provenance
- Reviewed source
- Unknown
- Supplement used by audit
- Unknown
- Supplement available
- Unknown
- Reviewed document format
- Unknown
- Evidence context scope
- Not recorded
- Evidence location
- Unknown
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.
Source or processing limitation
- Status
- Source or processing limitation
- Note
- Audit processing step was not completed