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
5b7f505052f58331e75d13f2- Release version
- webdb_threshold_completion_missing10_20260508
- PMID
40943461PubMed- Title
- Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
- Journal
- International journal of molecular sciences
- Year
- 2025
- DOI
- 10.3390/ijms26178541
- PMC
PMC12428849PMC
Variant information
This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.
- Gene
- SLC34A1
- Query variant
NM_003052.5:c.1361C>T- Normalized c.HGVS
- c.1361C>T
- Normalized p.HGVS
- p.(Thr454Met)
- Representative genomic HGVS
- CM000667.1:g.176824020C>T
- Genomic HGVS aliases
- CM000667.1:g.176824020C>T; CM000667.2:g.177397019C>T; NC_000005.10:g.177397019C>T; NC_000005.8:g.176756626C>T; NC_000005.9:g.176824020C>T; NG_016223.1:g.17589C>T
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
-
High confidence
Exact query c.HGVS was found in retained evidence.
- Phase-confirmed PM3 evidence
- Yes
- Phase-unconfirmed biallelic evidence
- Yes
- Other patient-level evidence
- No
- PM3 context
- PM3 evidence identified; partner variant not structured
- PM3 evidence items
- 1
- 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
- Candidate context retained: 7 text windows
- Context status
- Found in final retained audit context
- Text candidate windows
- 7
- Table candidate windows
- 0
- 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.