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
fc7a6efdb4b34068ca98e502- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
37471416PubMed- Title
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
- Journal
- PloS one
- Year
- 2023
- DOI
- 10.1371/journal.pone.0288907
- PMC
PMC10358992PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- IFT172
- Query variant
NM_015662.3:c.167A>C- Normalized c.HGVS
- c.167A>C
- Normalized p.HGVS
- p.(Lys56Thr)
- Representative genomic HGVS
- CM000664.1:g.27708243T>G
- Genomic HGVS aliases
- CM000664.1:g.27708243T>G; CM000664.2:g.27485376T>G; NC_000002.10:g.27561747T>G; NC_000002.11:g.27708243T>G; NC_000002.12:g.27485376T>G; NG_034068.1:g.9436A>C
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
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 3
- 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 and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 4
- Table candidate windows
- 2
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- 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
- 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.