Variant · Snv
ASAH1 NM_177924.5(ASAH1):c.503+71G>A
CI-VAR-00197751Explore in graph →NM_177924.5:c.503+71G>AClinVar 1192331 rs6586683
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1192331 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Farber lipogranulomatosis; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Uveal melanoma; Hepatocellular carcinoma | germline | 4 | Jul 14, 2021 | clinvar |