Variant (rsID / SNP)

rs78164236

rs78164236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCAN. Location: chromosome 5, position 82,817,000. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

VCANBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:82817000
Cytoband: 5q14.3
HGVS: NM_004385.5(VCAN):c.2875A>T (p.Ser959Cys)
Allele change: Missense_S959C

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.