CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/N78H (c.232A>C)

N78H (c.232A>C)

CIViC ID: 1754 · Gene: VHL

Variant Summary

Also known as
C.232A>C,ASN78HIS
HGVS
ENST00000256474.2:c.232A>C,NC_000003.11:g.10183763A>C,NM_000551.3:c.232A>C,NP_000542.1:p.Asn78His
Variant Type(s)
missense_variant
Evidence Items
4

Evidence Level Distribution

Level C: 4

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = N78H (c.232A>C).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionRenal Cell Carcinoma4
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2