Variant: rs121913346 

    present in Gene: VHL
    present in Chromosome: 3
    Position on Chromosome: 10149796
    Alleles of this Variant: T/A;C

rs121913346 in VHL gene and Neoplastic Syndromes, Hereditary PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

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

PMID 15935760 2005 Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways.

rs121913346 in VHL gene and Renal Cell Carcinoma PMID 11921283 2002 Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913346 in VHL gene and Von Hippel-Lindau Syndrome PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

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

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

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 7977367 1994 Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

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

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

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

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

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

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

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

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

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

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

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

PMID 8825919 1995 Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

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

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

PMID 10533030 1999 Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

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

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

PMID 10563480 1999 Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS).

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

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

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