Variant (rsID / SNP)
rs146630369
rs146630369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCAN. Location: chromosome 5, position 82,835,589. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
VCANConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:82835589
- Cytoband
- 5q14.3
- HGVS
- NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
- Allele change
- Silent
Associated conditions / phenotypes
Wagner syndrome|Vitreoretinopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.