Variant · Snv
TWNK NM_021830.5(TWNK):c.1735-14C>A
CI-VAR-00022287Explore in graph →NM_021830.5:c.1735-14C>AClinVar 136594 rs201795189
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 |
|---|---|---|---|---|---|---|---|---|
| 136594 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Infantile onset spinocerebellar ataxia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Autosomal recessive cerebellar ataxia; Ovarian serous cystadenocarcinoma; Familial cancer of breast | germline | 6 | Feb 02, 2026 | clinvar |