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
6cc3320f5989fbe18b8f7019- Release version
- v1.0
- PMID
29848554PubMed- Title
- Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
- Journal
- Cold Spring Harbor molecular case studies
- Year
- 2018
- PMC
PMC6071568PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ABCA4
- Query variant
NM_000350.3:c.4248C>A- Normalized c.HGVS
- c.4248C>A
- Normalized p.HGVS
- p.(Phe1416Leu)
- Representative genomic HGVS
- CM000663.1:g.94496557G>T
- Genomic HGVS aliases
- CM000663.1:g.94496557G>T; CM000663.2:g.94031001G>T; NC_000001.10:g.94496557G>T; NC_000001.11:g.94031001G>T; NC_000001.9:g.94269145G>T; NG_009073.1:g.95149C>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
- Confirmed in trans with c.4253+43G>A
- PM3 evidence items
- 2
- Allelic configuration type
- Confirmed in trans
Retained partner variants
c.4253+43G>A
Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.
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
- Yes
- 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
- 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.