CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/E94* (c.280G>T)

E94* (c.280G>T)

CIViC ID: 1794 · Gene: VHL

Variant Summary

Also known as
C.280G>T,E94X,GLU94TER,RS5030829
HGVS
ENST00000256474.2:c.280G>T,NM_198156.2:c.280G>T,NP_000542.1:p.Glu94Ter,NC_000003.11:g.10183811G>T
Variant Type(s)
stop_gained
Evidence Items
6

Evidence Level Distribution

Level C: 6

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = E94* (c.280G>T).

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