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
2ee1806c0bcfa01791d0b097- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
41709876PubMed- Title
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
- Journal
- Frontiers in genetics
- Year
- 2026
- DOI
- 10.3389/fgene.2026.1709951
- PMC
PMC12912711PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- GNE
- Query variant
NM_005476.7:c.329A>G- Normalized c.HGVS
- c.329A>G
- Normalized p.HGVS
- p.(His110Arg)
- Representative genomic HGVS
- CM000671.1:g.36246315T>C
- Genomic HGVS aliases
- CM000671.1:g.36246315T>C; CM000671.2:g.36246318T>C; NC_000009.10:g.36236315T>C; NC_000009.11:g.36246315T>C; NC_000009.12:g.36246318T>C; NG_008246.1:g.35727A>G
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 retained: 2 text windows and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 2
- Table candidate windows
- 2
- Target c.HGVS validated
- No
- Target p.HGVS validated
- No
- Target validation
- Target variant not validated in retained audit context
Candidate context was retained, but the target c.HGVS and p.HGVS expressions were not validated in that context.
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.