Variant (rsID / SNP)
rs1642742
rs1642742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,943. Clinical significance in the table: Benign.
Reference-table entries
VHLBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:10191943
- Cytoband
- 3p25.3
- HGVS
- NM_000551.4(VHL):c.*294G>A
- Allele change
- Silent
Associated conditions / phenotypes
Von Hippel-Lindau syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.