CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/C162Y (c.485G>A)

C162Y (c.485G>A)

CIViC ID: 1824 · Gene: VHL

Variant Summary

Also known as
C.485G>A,CYS162TYR,RS397516444
HGVS
NM_000551.3:c.485G>A,NP_000542.1:p.Cys162Tyr,NC_000003.11:g.10191492G>A,ENST00000256474.2:c.485G>A
Variant Type(s)
missense_variant
Evidence Items
4

Evidence Level Distribution

Level C: 4

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = C162Y (c.485G>A).

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