Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.

CIViC Variants/N78S (c.233A>G)

N78S (c.233A>G)

CIViC ID: 1755 · Gene: VHL

Variant Summary

Also known as: C.233A>G,ASN78SER,RS5030804
HGVS: NM_000551.3:c.233A>G,NP_000542.1:p.Asn78Ser,NC_000003.11:g.10183764A>G,ENST00000256474.2:c.233A>G
Variant Type(s): missense_variant
Evidence Items: 11

Evidence Level Distribution

Level C: 11

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = N78S (c.233A>G).

Level	Type	Direction	Significance	Disease	Drugs	Rating
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing			Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2