Variant (rsID / SNP)

rs869025630

rs869025630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,842. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VHLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:10183842
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.311G>T (p.Gly104Val)
Allele change: Missense_G104V

Associated conditions / phenotypes

Von Hippel-Lindau 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.