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
4320b99ff373ec0d5b7f3d87- Release version
- v1.0
- PMID
41918960PubMed- Title
- Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review.
- Journal
- Frontiers in allergy
- Year
- 2026
- PMC
PMC13033724PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- GAA
- Query variant
NM_000152.5:c.2237G>T- Normalized c.HGVS
- c.2237G>T
- Normalized p.HGVS
- p.(Trp746Leu)
- Representative genomic HGVS
- CM000679.1:g.78090814G>T
- Genomic HGVS aliases
- CM000679.1:g.78090814G>T; CM000679.2:g.80117015G>T; LRG_673:g.20460G>T; NC_000017.10:g.78090814G>T; NC_000017.11:g.80117015G>T; NC_000017.9:g.75705409G>T; 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
-
Needs review
Both exact and different substitutions occur at the queried position; manual review is required.
- PM3 conclusion
- No PM3-relevant allelic-configuration evidence was identified for this PMID × variant record.
- Patient-level evidence
- No retained patient-level evidence was identified for this record.
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
- No
- Target p.HGVS validated
- No
- Target validation
- Not recorded
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.