Variant · Snv
GLUD1 NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
CI-VAR-00020395Explore in graph →p.Thr490=NM_005271.5:c.1470G>AClinVar 129163 rs141844887
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 129163 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Hyperinsulinism-hyperammonemia syndrome; Inborn genetic diseases; Cervical cancer; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma | germline | 10 | Jan 27, 2026 | clinvar |