Variant (rsID / SNP)

rs864622646

rs864622646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,188,202. Clinical significance in the table: Likely benign.

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Reference-table entries

VHLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:10188202
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.345C>T (p.His115=)
Allele change: Silent

Associated conditions / phenotypes

Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.