CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/C162W (c.486C>G)

C162W (c.486C>G)

CIViC ID: 1774 · Gene: VHL

Variant Summary

Also known as
C.486C>G,CYS162TRP,RS869025662
HGVS
NM_000551.3:c.486C>G,NP_000542.1:p.Cys162Trp,NC_000003.11:g.10191493C>G,ENST00000256474.2:c.486C>G
Variant Type(s)
missense_variant
Evidence Items
6

Evidence Level Distribution

Level C: 6

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = C162W (c.486C>G).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease1