Variant Summary
- Also known as
- C.233A>T,ASN78ILE,RS5030804
- HGVS
- NM_000551.3:c.233A>T,NP_000542.1:p.Asn78Ile,NC_000003.11:g.10183764A>T,ENST00000256474.2:c.233A>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = N78I (c.233A>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |