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
e2aa55d5145e5642121f05a0- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
30827497PubMed- Title
- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
- Journal
- American journal of human genetics
- Year
- 2019
- DOI
- 10.1016/j.ajhg.2019.01.012
- PMC
PMC6407525PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- DYSF
- Query variant
NM_001130987.2:c.4111TCC[1]- Normalized c.HGVS
- c.4111TCC[1]
- Normalized p.HGVS
- p.(Ser1372del)
- Representative genomic HGVS
- CM000664.1:g.71838649_71838651del
- Genomic HGVS aliases
- CM000664.1:g.71838649_71838651del; CM000664.2:g.71611519_71611521del; NC_000002.10:g.71692157_71692159del; NC_000002.11:g.71838649_71838651del; NC_000002.12:g.71611519_71611521del; NG_008694.1:g.162897_162899del
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
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Potential PM3 evidence identified; genotype context not structured
- PM3 evidence items
- 1
- Allelic configuration type
- Compound heterozygous candidate
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: 1 text window and 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 1
- Table candidate windows
- 1
- 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.