Variant · Snv
FDFT1 NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg)
CI-VAR-00200958Explore in graph →p.Lys45ArgNM_004462.5:c.134A>GClinVar 1285264 rs4731
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1285264 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Squalene synthase deficiency; FDFT1-related disorder; Uterine corpus endometrial carcinoma; Colorectal cancer; Uveal melanoma; Thymoma; Cholangiocarcinoma; Adrenocortical carcinoma, hereditary | germline | 5 | Nov 27, 2024 | clinvar |