Variant: rs104893826 

    present in Gene: VHL
    present in Chromosome: 3
    Position on Chromosome: 10142038
    Alleles of this Variant: G/A;C

rs104893826 in VHL gene and ERYTHROCYTOSIS, FAMILIAL, 2 PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 17102083 2006 Frequent genetic changes in childhood pheochromocytomas.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

rs104893826 in VHL gene and Neoplastic Syndromes, Hereditary PMID 21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 19808854 2009 Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

rs104893826 in VHL gene and Von Hippel-Lindau Syndrome PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 17102083 2006 Frequent genetic changes in childhood pheochromocytomas.

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.