Variant Summary
- Also known as
- C.241C>T,PRO81SER,RS104893829
- HGVS
- NM_000551.3:c.241C>T,NP_000542.1:p.Pro81Ser,NC_000003.11:g.10183772C>T,ENST00000256474.2:c.241C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = P81S (c.241C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 3 | |||
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |