Variant · Snv
HK1 NM_000188.3(HK1):c.1031+6T>C
CI-VAR-00132185Explore in graph →NM_000188.3:c.1031+6T>CClinVar 776515 rs57012387
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 |
|---|---|---|---|---|---|---|---|---|
| 776515 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Retinitis pigmentosa 79; Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Neurodevelopmental disorder with visual defects and brain anomalies; Uveal melanoma; Sarcoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Uterine corpus endometrial carcinoma; Thymoma; Lung cancer; Acute myeloid leukemia; Cervical cancer | germline | 6 | Jan 27, 2026 | clinvar |