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
8ff5f2163d8d07d539fcd858- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
20890085PubMed- Title
- Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
- Journal
- The Korean journal of laboratory medicine
- Year
- 2010
- DOI
- 10.3343/kjlm.2010.30.5.516
- PMC
PMC5738620PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ARSA
- Query variant
NM_000487.6:c.296G>A- Normalized c.HGVS
- c.296G>A
- Normalized p.HGVS
- p.(Arg99Gln)
- Representative genomic HGVS
- CM000684.1:g.51065763C>T
- Genomic HGVS aliases
- CM000684.1:g.51065763C>T; CM000684.2:g.50627335C>T; NC_000022.10:g.51065763C>T; NC_000022.11:g.50627335C>T; NC_000022.9:g.49412629C>T; NG_009260.2:g.5845G>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
-
Needs review
Llm Review Not Conclusive For Removal
- Phase-confirmed PM3 evidence
- No
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 1
- 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: 2 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 2
- Table candidate windows
- 0
- Target c.HGVS validated
- No
- 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.