Variant (rsID / SNP)

rs864622109

rs864622109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,562. 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: 3:10191562
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.555C>T (p.Tyr185=)
Allele change: Nonsense_Y144X

Associated conditions / phenotypes

Von Hippel-Lindau syndrome|Chuvash polycythemia|Hereditary cancer-predisposing syndrome

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.