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
2cab7ce62870a6ea697a505f- Release version
- v1.0
- PMID
21493627PubMed- Title
- B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
- Journal
- Human molecular genetics
- Year
- 2011
- PMC
PMC3109998PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- CEP290
- Query variant
NM_025114.4:c.6628C>T- Normalized c.HGVS
- c.6628C>T
- Normalized p.HGVS
- p.(Arg2210Cys)
- Representative genomic HGVS
- CM000674.1:g.88453692G>A
- Genomic HGVS aliases
- CM000674.1:g.88453692G>A; CM000674.2:g.88059915G>A; NC_000012.10:g.86977823G>A; NC_000012.11:g.88453692G>A; NC_000012.12:g.88059915G>A; NG_008417.1:g.87302C>T; 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
- Other Patient-Level Evidence
- Query-evidence confidence
-
Needs review
No same-position c.HGVS token was found in the scanned evidence fields; manual review is required.
- 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
- 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
- No
- 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
- HTML 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.