Variant · Snv
PHKB NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
CI-VAR-00093866Explore in graph →p.Ile192ValNM_000293.3:c.574A>GClinVar 516456 rs117218785
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 |
|---|---|---|---|---|---|---|---|---|
| 516456 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Glycogen storage disease IXb; PHKB-related disorder; Clear cell carcinoma of kidney; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Melanoma; Malignant tumor of esophagus; Familial cancer of breast; Uterine corpus endometrial carcinoma; Lung cancer | germline | 9 | Feb 01, 2026 | clinvar |