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
65fd8e86b6ea75329079b470- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
37822418PubMed- Title
- The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.
- Journal
- Global medical genetics
- Year
- 2023
- DOI
- 10.1055/s-0043-1775979
- PMC
PMC10564565PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ACADVL
- Query variant
NM_000018.4:c.65C>T- Normalized c.HGVS
- c.65C>T
- Normalized p.HGVS
- p.(Ser22Leu)
- Representative genomic HGVS
- CM000679.1:g.7123443C>T
- Genomic HGVS aliases
- CM000679.1:g.7123443C>T; CM000679.2:g.7220124C>T; NC_000017.10:g.7123443C>T; NC_000017.11:g.7220124C>T; NC_000017.9:g.7064167C>T; NG_007975.1:g.5291C>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
- 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: 4 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 4
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- 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
- NXML/JATS full text
- Evidence context scope
- Expanded 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.