CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/Q164* (c.490C>T)

Q164* (c.490C>T)

CIViC ID: 1845 · Gene: VHL

Variant Summary

Also known as
C.490C>T,Q164X,GLN164TER,RS5030819
HGVS
NM_000551.3:c.490C>T,NP_000542.1:p.Gln164Ter,NC_000003.11:g.10191497C>T,ENST00000256474.2:c.490C>T
Variant Type(s)
stop_gained
Evidence Items
5

Evidence Level Distribution

Level C: 5

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = Q164* (c.490C>T).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
COncogenicSupportsOncogenicityClear Cell Renal Cell Carcinoma1