CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/R161Q (c.482G>A)

R161Q (c.482G>A)

CIViC ID: 1746 · Gene: VHL

Variant Summary

Also known as
C.482G>A,ARG161GLN,RS730882035
HGVS
NM_000551.3:c.482G>A,NP_000542.1:p.Arg161Gln,NC_000003.11:g.10191489G>A,ENST00000256474.2:c.482G>A
Variant Type(s)
missense_variant
Evidence Items
10

Evidence Level Distribution

Level C: 10

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = R161Q (c.482G>A).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease4
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2