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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
afcc7699bc96570e65efbdab
Release version
webdb_threshold_completion_missing10_20260508
PMID
25418962 PubMed
Title
Simulation and estimation of gene number in a biological pathway using almost complete saturation mutagenesis screening of haploid mouse cells.
Journal
BMC genomics
Year
2014
DOI
10.1186/1471-2164-15-1016
PMC
PMC4301880 PMC

Variant information

This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.

Gene
SERPINE1
Query variant
NM_000602.5:c.469T>C
Normalized c.HGVS
c.469T>C
Normalized p.HGVS
p.(Phe157Leu)
Representative genomic HGVS
CM000669.1:g.100773899T>C
Genomic HGVS aliases
CM000669.1:g.100773899T>C; CM000669.2:g.101130618T>C; LRG_597:g.8521T>C; NC_000007.12:g.100560619T>C; NC_000007.13:g.100773899T>C; NC_000007.14:g.101130618T>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
Phase-unconfirmed biallelic evidence
Query-evidence confidence
Needs review
Llm Review Not Conclusive For Removal
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 10 table windows
Context status
Found in final retained audit context
Text candidate windows
3
Table candidate windows
10
Target c.HGVS validated
No
Target p.HGVS validated
Yes
Target validation
Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source
Supplementary material
Supplement used by audit
Yes
Supplement available
Yes
Reviewed document format
NXML/JATS full text
Evidence context scope
Supplement-focused audit context
Evidence location
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.

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