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
acf1956c6f81aec23001e1da- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
19230829PubMed- Title
- Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
- Journal
- Brain research
- Year
- 2009
- DOI
- 10.1016/j.brainres.2009.02.008
- PMC
PMC2755050PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- GJB2
- Query variant
NM_004004.6:c.476A>T- Normalized c.HGVS
- c.476A>T
- Normalized p.HGVS
- p.(Asp159Val)
- Representative genomic HGVS
- CM000675.1:g.20763245T>A
- Genomic HGVS aliases
- CM000675.1:g.20763245T>A; CM000675.2:g.20189106T>A; NC_000013.10:g.20763245T>A; NC_000013.11:g.20189106T>A; NC_000013.9:g.19661245T>A; NG_008358.1:g.8870A>T
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
- Possible compound heterozygous with 176–191 del (16); 313del14; 31del14; +29 more
- PM3 evidence items
- 1
- Allelic configuration type
- Compound heterozygous candidate
Retained partner variants
176–191 del (16)313del1431del14355del9465T-->A573delCA605ins46C202FF142LK168RK224QL20 5PN54KP173SP58AQ80KR32CS113PS199FT55Gc.684C>Ac.A583Gc.G241Cp.Leu81Valp.Lys168Argp.Met195Val
Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.
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 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 0
- 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
- BioC 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.