Variant (rsID / SNP)

rs141008923

rs141008923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCAN. Location: chromosome 5, position 82,789,493. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VCANBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:82789493
Cytoband: 5q14.2
HGVS: NM_004385.5(VCAN):c.574G>A (p.Gly192Arg)
Allele change: Missense_G192R

Associated conditions / phenotypes

Vitreoretinopathy|Wagner 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.