CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/E70* (c.208G>T)

E70* (c.208G>T)

CIViC ID: 1834 · Gene: VHL

Variant Summary

Also known as
C.208G>T,E70X,GLU70TER,RS5030802
HGVS
NM_000551.3:c.208G>T,NP_000542.1:p.Glu70Ter,NC_000003.11:g.10183739G>T,ENST00000256474.2:c.208G>T
Variant Type(s)
stop_gained
Evidence Items
4

Evidence Level Distribution

Level C: 4

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = E70* (c.208G>T).

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