Variant Summary
- Also known as
- C.*70C>A,(C.642+70C>A)
- HGVS
- NC_000003.11:g.10191719C>A,ENST00000256474.2:c.*70C>A,NM_000551.3:c.*70C>A,NP_000542.1:p.=
- Variant Type(s)
- 3_prime_UTR_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = 3'UTR alteration (c.*70C>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |