CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/E70K (c.208G>A)

E70K (c.208G>A)

CIViC ID: 1956 · Gene: VHL

Variant Summary

Also known as
C.208G>A,GLU70LYS,RS5030802
HGVS
NM_000551.3:c.208G>A,NP_000542.1:p.Glu70Lys,NC_000003.11:g.10183739G>A,ENST00000256474.2:c.208G>A
Variant Type(s)
missense_variant
Evidence Items
6

Evidence Level Distribution

Level C: 6

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = E70K (c.208G>A).

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