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
c8807e589fe2d142e2249f63- Release version
- v1.0
- PMID
34728979PubMed- Title
- Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia.
- Journal
- Annals of Indian Academy of Neurology
- Year
- 2021
- PMC
PMC8513963PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- ATM
- Query variant
NM_000051.4:c.9156G>T- Normalized c.HGVS
- c.9156G>T
- Normalized p.HGVS
- p.(Trp3052Cys)
- Representative genomic HGVS
- CM000673.1:g.108236220G>T
- Genomic HGVS aliases
- CM000673.1:g.108236220G>T; CM000673.2:g.108365493G>T; LRG_135:g.147662G>T; NC_000011.10:g.108365493G>T; NC_000011.8:g.107741430G>T; NC_000011.9:g.108236220G>T; and 2 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
- Phase-confirmed PM3 evidence
- Query-evidence confidence
-
Low confidence
Retained evidence contains a different ref/alt substitution at the queried cDNA position.
- Phase-confirmed PM3 evidence
- Yes
- Phase-unconfirmed biallelic evidence
- No
- Other patient-level evidence
- No
- PM3 context
- Homozygous for query variant
- PM3 evidence items
- 2
- Allelic configuration type
- Confirmed in trans
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
- 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.