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
63c6f9049174b9039cfb0a17- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
41162535PubMed- Title
- Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
- Journal
- Scientific reports
- Year
- 2025
- DOI
- 10.1038/s41598-025-22794-6
- PMC
PMC12572108PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- SLC26A2
- Query variant
NM_000112.4:c.1011TGT[5]- Normalized c.HGVS
- c.1011TGT[5]
- Normalized p.HGVS
- p.(Val341dup)
- Representative genomic HGVS
- CM000667.1:g.149360176_149360178dup
- Genomic HGVS aliases
- CM000667.1:g.149360176_149360178dup; CM000667.2:g.149980613_149980615dup; LRG_684:g.21731_21733dup; NC_000005.10:g.149980613_149980615dup; NC_000005.8:g.149340369_149340371dup; NC_000005.9:g.149360176_149360178dup; 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
- Phase-unconfirmed biallelic evidence
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 1
- 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: 3 text windows and 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 3
- Table candidate windows
- 1
- Target c.HGVS validated
- No
- 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
- BioC 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.