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
04715f359bd9b0d81b96fbeb- Release version
- v1.0
- PMID
34006618PubMed- Title
- WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
- Journal
- Journal of medical genetics
- Year
- 2022
- PMC
PMC8685651PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- WFS1
- Query variant
NM_006005.3:c.1153G>C- Normalized c.HGVS
- c.1153G>C
- Normalized p.HGVS
- p.(Glu385Gln)
- Representative genomic HGVS
- CM000666.1:g.6302675G>C
- Genomic HGVS aliases
- CM000666.1:g.6302675G>C; CM000666.2:g.6300948G>C; NC_000004.10:g.6353576G>C; NC_000004.11:g.6302675G>C; NC_000004.12:g.6300948G>C; NG_011700.1:g.36099G>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
- Other Patient-Level Evidence
- Query-evidence confidence
-
Low confidence
Retained evidence contains a different ref/alt substitution at the queried cDNA position.
- 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
- No candidate context window was retained
- Context status
- Found in final retained audit context
- 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
- Main article
- Supplement used by audit
- No
- Supplement available
- Yes
- 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.