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
0d368b15952598fe68d3ff02- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
27256251PubMed- Title
- Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
- Journal
- Scientific reports
- Year
- 2016
- DOI
- 10.1038/srep26872
- PMC
PMC4891722PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ABCB4
- Query variant
NM_000443.4:c.857C>T- Normalized c.HGVS
- c.857C>T
- Normalized p.HGVS
- p.(Ala286Val)
- Representative genomic HGVS
- CM000669.1:g.87076498G>A
- Genomic HGVS aliases
- CM000669.1:g.87076498G>A; CM000669.2:g.87447182G>A; NC_000007.12:g.86914434G>A; NC_000007.13:g.87076498G>A; NC_000007.14:g.87447182G>A; NG_007118.1:g.38251C>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
- Other Patient-Level Evidence
- Query-evidence confidence
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- Yes
- PM3 context
- Patient-level evidence found, not PM3
- PM3 evidence items
- 0
- Allelic configuration type
- Other patient-level 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: 1 text window and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 1
- Table candidate windows
- 2
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with other patient-level evidence
Source provenance
- Reviewed source
- Main article and supplement
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- NXML/JATS full text
- Evidence context scope
- Primary audit context
- Evidence location
- Main+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.