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
0bdc50309d958eaf49aa05df- Release version
- v1.0
- PMID
27854229PubMed- Title
- Increasing Role of Titin Mutations in Neuromuscular Disorders.
- Journal
- Journal of neuromuscular diseases
- Year
- 2016
- PMC
PMC5123623PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- TTN
- Query variant
NM_001267550.2:c.39201_39203dup- Normalized c.HGVS
- c.39201_39203dup
- Normalized p.HGVS
- p.(Pro13068dup)
- Representative genomic HGVS
- CM000664.1:g.179517001_179517003dup
- Genomic HGVS aliases
- CM000664.1:g.179517001_179517003dup; CM000664.2:g.178652274_178652276dup; LRG_391:g.183529_183531dup; NC_000002.10:g.179225246_179225248dup; NC_000002.11:g.179517001_179517003dup; NC_000002.12:g.178652274_178652276dup; 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
-
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
- No candidate context window was retained
- Context status
- Found in final retained audit context
- Text candidate windows
- 0
- Table candidate windows
- 0
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Not recorded
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- No
- Reviewed document format
- NXML/JATS 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.