CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/V84L (c.250G>T)

V84L (c.250G>T)

CIViC ID: 1815 · Gene: VHL

Variant Summary

Also known as
C.250G>T,VAL84LEU,RS5030827
HGVS
NM_000551.3:c.250G>T,NP_000542.1:p.Val84Leu,NC_000003.11:g.10183781G>T,ENST00000256474.2:c.250G>T
Variant Type(s)
missense_variant
Evidence Items
2

Evidence Level Distribution

Level C: 2

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = V84L (c.250G>T).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2