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
feb804bda60b9033c8bb4165- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
21961505PubMed- Title
- Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
- Journal
- BMC neurology
- Year
- 2011
- DOI
- 10.1186/1471-2377-11-119
- PMC
PMC3196702PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- WDR62
- Query variant
NM_001083961.2:c.1576G>A- Normalized c.HGVS
- c.1576G>A
- Normalized p.HGVS
- p.(Glu526Lys)
- Representative genomic HGVS
- CM000681.1:g.36575580G>A
- Genomic HGVS aliases
- CM000681.1:g.36575580G>A; CM000681.2:g.36084678G>A; NC_000019.10:g.36084678G>A; NC_000019.8:g.41267420G>A; NC_000019.9:g.36575580G>A; NG_028101.1:g.34798G>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
- 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
- Homozygous for query variant
- PM3 evidence items
- 2
- Allelic configuration type
- Homozygous 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: 8 text windows and 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 8
- 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.