Variant · Snv
EHMT1 NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
CI-VAR-00025872Explore in graph →p.Gly160=NM_024757.5:c.480C>TClinVar 167034 rs150135875
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 |
|---|---|---|---|---|---|---|---|---|
| 167034 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Kleefstra syndrome 1; Inborn genetic diseases; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Uterine carcinosarcoma; Malignant tumor of urinary bladder; Hepatocellular carcinoma | germline | 11 | Jun 01, 2026 | clinvar |