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
9c969dde5741a7bfa009387b- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
41675682PubMed- Title
- Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis.
- Journal
- Molecular syndromology
- Year
- 2026
- DOI
- 10.1159/000545348
- PMC
PMC12890284PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- COL7A1
- Query variant
NM_000094.4:c.3602G>A- Normalized c.HGVS
- Not available
- Normalized p.HGVS
- Not available
- Representative genomic HGVS
- CM000665.1:g.48623628C>T
- Genomic HGVS aliases
- CM000665.1:g.48623628C>T; CM000665.2:g.48586195C>T; LRG_286:g.14058G>A; NC_000003.10:g.48598632C>T; NC_000003.11:g.48623628C>T; NC_000003.12:g.48586195C>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
- No PM3 Evidence Identified
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- 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 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
- Limited by source availability or processing status
Source provenance
- Reviewed source
- Unknown
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- BioC 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
- BioC full-text parsing failed