Publication
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Authors not recorded
Am J Med Genet A2010PMID 20583150stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
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 Q164R (c.491A>G)civic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 20583150
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Q164R (c.491A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID5444A 2.75 year old patient (32 month-old girl) presented with a pheochromocytoma. Genetic sequencing revealed a c.491A>G (p.Gln164Arg) heterozygous germline mutation in exon 3 of the VHL gene. Sequencing… (full text at CIViC) PMID 20583150 · Sovinz et al., 2010 · Open in CIViC | civic |