CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/C162F (c.485G>T)

C162F (c.485G>T)

CIViC ID: 1773 · Gene: VHL

Variant Summary

Also known as
C.485G>T,CYS162PHE,RS397516444
HGVS
NM_000551.3:c.485G>T,NP_000542.1:p.Cys162Phe,NC_000003.11:g.10191492G>T,ENST00000256474.2:c.485G>T
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 = C162F (c.485G>T).

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