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
c02517629665ef4ec0796b20- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
41892021PubMed- Title
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
- Journal
- International journal of neonatal screening
- Year
- 2026
- DOI
- 10.3390/ijns12010013
- PMC
PMC13027380PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- PAH
- Query variant
NM_000277.3:c.473G>C- Normalized c.HGVS
- Not available
- Normalized p.HGVS
- Not available
- Representative genomic HGVS
- CM000674.1:g.103260410C>G
- Genomic HGVS aliases
- CM000674.1:g.103260410C>G; CM000674.2:g.102866632C>G; NC_000012.10:g.101784540C>G; NC_000012.11:g.103260410C>G; NC_000012.12:g.102866632C>G; NG_008690.1:g.55971G>C; 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.
- Phase-confirmed PM3 evidence
- Unknown
- Phase-unconfirmed biallelic evidence
- Unknown
- Other patient-level evidence
- Unknown
- PM3 context
- No PM3 candidate genotype identified
- PM3 evidence items
- 0
- Allelic configuration type
- No PM3 candidate genotype identified
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 could not be fully assessed
- Context status
- No retained audit row
- Text candidate windows
- 0
- Table candidate windows
- 0
- Target c.HGVS validated
- Unknown
- Target p.HGVS validated
- Unknown
- Target validation
- Limited by source availability or processing status
Source provenance
- Reviewed source
- Unknown
- Supplement used by audit
- Unknown
- Supplement available
- Unknown
- Reviewed document format
- Unknown
- Evidence context scope
- Not recorded
- Evidence location
- Unknown
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
- Audit processing step was not completed