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
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
NM_000551.3