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
152754bf0840b6e4a7e64f30- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
26275418PubMed- Title
- IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
- Journal
- Journal of medical genetics
- Year
- 2015
- DOI
- 10.1136/jmedgenet-2014-102838
- PMC
PMC4621372PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- IFT81
- Query variant
NM_014055.4:c.2015_2019del- Normalized c.HGVS
- c.2015_2019del
- Normalized p.HGVS
- p.(Asp672AlafsTer15)
- Representative genomic HGVS
- CM000674.1:g.110656015_110656019del
- Genomic HGVS aliases
- CM000674.1:g.110656015_110656019del; CM000674.2:g.110218210_110218214del; NC_000012.10:g.109140398_109140402del; NC_000012.11:g.110656015_110656019del; NC_000012.12:g.110218210_110218214del; NG_052859.1:g.98876_98880del
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-confirmed PM3 evidence
- Query-evidence confidence
-
Not assessed
This record was not classified by the simple-SNV query-evidence audit.
- Phase-confirmed PM3 evidence
- Yes
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 3
- 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: 7 text windows and 1 table window
- Context status
- Found in final retained audit context
- Text candidate windows
- 7
- Table candidate windows
- 1
- Target c.HGVS validated
- Yes
- Target p.HGVS validated
- Yes
- Target validation
- Target variant matched with phase-confirmed PM3 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
- 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.