VHL E55* (c.163G>T)

CI-VAR-00000785Explore in graph →NP_000542.1:p.Glu55TerNM_000551.4:c.163G>TCIViC 1736

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 E55* (c.163G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4898 Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with type von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be fou… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · 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.