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
44db8ae952a5c3f3008470df- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
40309478PubMed- Title
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
- Journal
- Human mutation
- Year
- 2025
- DOI
- 10.1155/humu/9326326
- PMC
PMC12041640PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- SLC25A13
- Query variant
NM_014251.3:c.1157G>C- Normalized c.HGVS
- c.1157G>C
- Normalized p.HGVS
- p.(Gly386Ala)
- Representative genomic HGVS
- CM000669.1:g.95813609C>G
- Genomic HGVS aliases
- CM000669.1:g.95813609C>G; CM000669.2:g.96184297C>G; NC_000007.12:g.95651545C>G; NC_000007.13:g.95813609C>G; NC_000007.14:g.96184297C>G; NG_012247.1:g.142851G>C; 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
-
Low confidence
Deterministic And Llm Different Variant
- 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
- Candidate context retained: 2 text windows and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 2
- Table candidate windows
- 2
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- Target validation
- Target variant matched with phase-unconfirmed biallelic evidence
Candidate context was retained, but the target c.HGVS and p.HGVS expressions were not validated in that context.
Source provenance
- Reviewed source
- Supplementary material
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- Supplement-focused audit context
- Evidence location
- Supp
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.