Variant: rs104893824 

    present in Gene: VHL
    present in Chromosome: 3
    Position on Chromosome: 10142181
    Alleles of this Variant: T/A;C

rs104893824 in VHL gene and Von Hippel-Lindau Syndrome PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 8592333 1995 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

PMID 19030229 2008 VHL type 2B mutations retain VBC complex form and function.

PMID 8825918 1995 Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PMID 8956040 1996 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

PMID 9452032 1998 Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PMID 8863170 1996 Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PMID 8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9452106 1998 Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.

PMID 21713522 2011 Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.

PMID 8493574 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene.

PMID 8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PMID 17526729 2007 Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.

PMID 7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PMID 19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

PMID 10533030 1999 We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.

PMID 10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PMID 10635329 1999 Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 10761708 2000 Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

PMID 15574766 2004 In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

PMID 16502427 2006 The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

PMID 10627136 1998 Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.