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
99dd585f0fdc37f6b0bfda70- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
29974258PubMed- Title
- Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
- Journal
- Pediatric nephrology (Berlin, Germany)
- Year
- 2018
- DOI
- 10.1007/s00467-018-3958-7
- PMC
PMC6132874PMC
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.6320A>G- Normalized c.HGVS
- c.6320A>G
- Normalized p.HGVS
- p.(Lys2107Arg)
- Representative genomic HGVS
- CM000674.1:g.88456506T>C
- Genomic HGVS aliases
- CM000674.1:g.88456506T>C; CM000674.2:g.88062729T>C; NC_000012.10:g.86980637T>C; NC_000012.11:g.88456506T>C; NC_000012.12:g.88062729T>C; NG_008417.1:g.84488A>G; 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
-
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: 1 text window and 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 1
- Table candidate windows
- 1
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with other patient-level evidence
Source provenance
- Reviewed source
- Main article
- Supplement used by audit
- No
- Supplement available
- Yes
- 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.