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
a4792ead1383f1c41e95b36b- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
39846592PubMed- Title
- Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
- Journal
- International journal of neonatal screening
- Year
- 2025
- DOI
- 10.3390/ijns11010006
- PMC
PMC11755445PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ATP7B
- Query variant
NM_000053.4:c.98T>C- Normalized c.HGVS
- c.98T>C
- Normalized p.HGVS
- p.(Met33Thr)
- Representative genomic HGVS
- CM000675.1:g.52549258A>G
- Genomic HGVS aliases
- CM000675.1:g.52549258A>G; CM000675.2:g.51975122A>G; NC_000013.10:g.52549258A>G; NC_000013.11:g.51975122A>G; NC_000013.9:g.51447259A>G; NG_008806.1:g.41373T>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
- Phase-unconfirmed biallelic evidence
- Query-evidence confidence
-
High confidence
Exact query c.HGVS was found in retained evidence.
- 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: 54 text windows and 8 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 54
- Table candidate windows
- 8
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- No
- 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
- NXML/JATS full text
- Evidence context scope
- Expanded 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.