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
a5b09b8f0becee41592e678e- Release version
- v1.0
- PMID
24745848PubMed- Title
- PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
- Journal
- Molecular genetics and metabolism
- Year
- 2014
- PMC
PMC4048546PMC
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.2375A>C- Normalized c.HGVS
- c.2375A>C
- Normalized p.HGVS
- p.(His792Pro)
- Representative genomic HGVS
- CM000684.1:g.38508214T>G
- Genomic HGVS aliases
- CM000684.1:g.38508214T>G; CM000684.2:g.38112207T>G; NC_000022.10:g.38508214T>G; NC_000022.11:g.38112207T>G; NC_000022.9:g.36838160T>G; NG_007094.2:g.98484A>C; and 2 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
-
High confidence
Exact query c.HGVS was found in retained evidence.
- 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
- 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
- Yes
- 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.