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
81faa6cb213360a6cd345944- Release version
- v1.0
- PMID
41790749PubMed- Title
- Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.
- Journal
- Human molecular genetics
- Year
- 2026
- PMC
- Not available
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ATP7B
- Query variant
NM_000053.4:c.2138A>G- Normalized c.HGVS
- Not available
- Normalized p.HGVS
- Not available
- Representative genomic HGVS
- CM000675.1:g.52532664T>C
- Genomic HGVS aliases
- CM000675.1:g.52532664T>C; CM000675.2:g.51958528T>C; NC_000013.10:g.52532664T>C; NC_000013.11:g.51958528T>C; NC_000013.9:g.51430665T>C; NG_008806.1:g.57967A>G
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
- Source Unavailable or Incomplete
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- No
- 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
- Limited by source availability or processing status
- 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
- Unknown
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- No retained audit context
- Evidence location
- No reviewed evidence source recorded
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
- NXML/JATS full-text parsing failed