VHL F76L (c.228C>G)

CI-VAR-00001134Explore in graph →NP_000542.1:p.Phe76LeuNM_000551.3:c.228C>GCIViC 2107

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease1unmapped disease
VHL F76L (c.228C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5671 Seven VHL mutations were identified in 10 unrelated, Swedish families. This missense mutation was found in a family of 8 individuals. One affected family member had renal cell carcinoma, 2 had retinal… (full text at CIViC) PMID 9452032 · Li et al., 1998 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.