Publication

Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.

Authors not recorded

Hum Mutat2000PMID 10862095stubpubmedPublished

Abstract

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Linked entities

Linked entities (2)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 2

geneVHLcivic_curation1.00
variantVHL E94FS (c.279delC)civic_curation1.00

Curated evidence

Evidence citing this paper (2)

civicCuratedShowing 1–2 of 2 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL E94FS (c.279delC)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5722 This mutation was found in a 51 year old female with hemangioblastomas of the cerebellum, pancreatic cysts, and bilateral renal adenocarcinomas. Patient's mother died of a brain tumor. Mutation was no… (full text at CIViC) PMID 10862095 · Moore et al., 2000 · Open in CIViC	civic
VHL P97= (c.291C>G)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	2	submitted	EID5723 This study reports a novel mutation in a 51 year old female with VHL disease. This silent mutation was found in one unaffected patient, identified after screening 55 individuals. PMID 10862095 · Moore et al., 2000 · Open in CIViC	civic