Variant (rsID / SNP)

rs1064794272

rs1064794272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,188,250. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VHLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:10188250
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
Allele change: Silent

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.