CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/Q195* (c.583C>T)

Q195* (c.583C>T)

CIViC ID: 1810 · Gene: VHL

Variant Summary

Also known as
C.583C>T,Q195X,GLN195TER,RS5030825
HGVS
NM_000551.3:c.583C>T,NP_000542.1:p.Gln195Ter,NC_000003.11:g.10191590C>T,ENST00000256474.2:c.583C>T
Variant Type(s)
stop_gained
Evidence Items
9

Evidence Level Distribution

Level C: 9

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = Q195* (c.583C>T).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease4
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
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 Disease1