Variant · Snv
AHDC1 NM_001371928.1(AHDC1):c.483C>T (p.Gly161=)
CI-VAR-00196019Explore in graph →p.Gly161=NM_001371928.1:c.483C>TClinVar 1167406 rs112583157
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 |
|---|---|---|---|---|---|---|---|---|
| 1167406 | Benign | criteria provided, multiple submitters, no conflicts | 2 | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome; AHDC1-related disorder; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Thyroid cancer, nonmedullary, 1; Malignant tumor of esophagus; Lung cancer; Cervical cancer; Familial cancer of breast; Thymoma | germline | 6 | Feb 03, 2026 | clinvar |