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
6e4f9ac1da35cf9785c9cac8- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
24463883PubMed- Title
- Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
- Journal
- Human molecular genetics
- Year
- 2014
- DOI
- 10.1093/hmg/ddu030
- PMC
PMC4030775PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ANK3
- Query variant
NM_020987.5:c.3139G>A- Normalized c.HGVS
- c.3139G>A
- Normalized p.HGVS
- p.(Val1047Ile)
- Representative genomic HGVS
- CM000672.1:g.61868622C>T
- Genomic HGVS aliases
- CM000672.1:g.61868622C>T; CM000672.2:g.60108864C>T; NC_000010.10:g.61868622C>T; NC_000010.11:g.60108864C>T; NC_000010.9:g.61538628C>T; NG_029917.1:g.629663G>A
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
- Other Patient-Level Evidence
- Query-evidence confidence
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- Yes
- PM3 context
- Patient-level evidence found, not PM3
- PM3 evidence items
- 0
- Allelic configuration type
- Other patient-level 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: 6 text windows and 2 table windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 6
- Table candidate windows
- 2
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with other patient-level evidence
Source provenance
- Reviewed source
- Supplementary material
- Supplement used by audit
- Yes
- Supplement available
- Yes
- Reviewed document format
- BioC full text
- Evidence context scope
- Expanded 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.