Variant (rsID / SNP)

rs769102979

rs769102979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,846. 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: 3:10183846
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.315G>C (p.Thr105=)
Allele change: Synonymous_T105T

Associated conditions / phenotypes

Chuvash polycythemia|Von Hippel-Lindau syndrome|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.