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
d467254eef7b99769c1b76b3- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
38791074PubMed- Title
- Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
- Journal
- Biomedicines
- Year
- 2024
- DOI
- 10.3390/biomedicines12051112
- PMC
PMC11117922PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- GJB2
- Query variant
NM_004004.6:c.663G>C- Normalized c.HGVS
- c.663G>C
- Normalized p.HGVS
- p.(Lys221Asn)
- Representative genomic HGVS
- CM000675.1:g.20763058C>G
- Genomic HGVS aliases
- CM000675.1:g.20763058C>G; CM000675.2:g.20188919C>G; NC_000013.10:g.20763058C>G; NC_000013.11:g.20188919C>G; NC_000013.9:g.19661058C>G; NG_008358.1:g.9057G>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
-
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 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 1
- Table candidate windows
- 1
- 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.