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Table 1 Genetic surveillance assays were performed based on blood sample

From: Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

Gene

Mutation

type

Nucleotide change

Amino acid

change

Amino acid

change

Rate(%)

Chr

Exon

Initial position

Terminal

position

Transcript number

VHL

Missense

c.500G > A

p.Arg167Gln

p.R167Q

50.5

3

3|3

10,191,507

10,191,507

NM_000551.3

  1. Gene mutation and tumor mutation burden analysis indicated germline pathogenic mutation of VHL gene (c.500G > A, p.Arg167Gln)