Publication

Novel mutations in the von Hippel-Lindau gene associated with congenital polycythemia.

Authors not recorded

Pediatr Blood Cancer2015PMID 25586603stubpubmedPublished

Abstract

Abstract (excerpt)

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Linked entities

Linked entities (3)

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 3

geneVHLcivic_curation1.00
variantVHL N150S (c.449A>G)civic_curation1.00
variantVHL Q145* (c.433C>T)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 N150S (c.449A>G)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	accepted	EID5799 This is a case report on a 9-month-old female with polycythemia. The patient carries a de novo nonsense mutation [Q145* (c.433C>T)] and this paternally inherited, missense mutation. The authors of thi… (full text at CIViC) PMID 25586603 · Sidhu et al., 2015 · Open in CIViC	civic
VHL Q145* (c.433C>T)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	accepted	EID5798 This is a case report on a 9-month-old female with polycythemia. The patient carries a paternally inherited missense mutation (EID5799) and this de novo, nonsense mutation. ACMG codes as follows: A no… (full text at CIViC) PMID 25586603 · Sidhu et al., 2015 · Open in CIViC	civic