Variant · Snv
HSD17B4 NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
CI-VAR-00037355Explore in graph →p.Thr292SerNM_000414.4:c.875C>GClinVar 226674 rs1143650
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 226674 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Sarcoma; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Gastric cancer; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Clear cell carcinoma of kidney; Colorectal cancer; Nonpapillary renal cell carcinoma; Cervical cancer | germline | 10 | Feb 04, 2026 | clinvar |