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
411d8409fc383ef5bc9dc630- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
32494558PubMed- Title
- Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene.
- Journal
- Intractable & rare diseases research
- Year
- 2020
- DOI
- 10.5582/irdr.2020.03013
- PMC
PMC7263986PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- POMT2
- Query variant
NM_013382.7:c.1106G>A- Normalized c.HGVS
- c.1106G>A
- Normalized p.HGVS
- p.(Arg369His)
- Representative genomic HGVS
- CM000676.1:g.77762517C>T
- Genomic HGVS aliases
- CM000676.1:g.77762517C>T; CM000676.2:g.77296174C>T; LRG_844:g.29709G>A; NC_000014.7:g.76832270C>T; NC_000014.8:g.77762517C>T; NC_000014.9:g.77296174C>T; 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-confirmed PM3 evidence
- Query-evidence confidence
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- Yes
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- PM3 evidence identified; partner variant not structured
- PM3 evidence items
- 1
- Allelic configuration type
- Confirmed in trans
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: 9 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 9
- Table candidate windows
- 0
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with phase-confirmed PM3 evidence
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- HTML 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.