Variant (rsID / SNP)

rs80028865

rs80028865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCAN. Location: chromosome 5, position 82,834,681. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VCANConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:82834681
Cytoband: 5q14.3
HGVS: NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
Allele change: Silent

Associated conditions / phenotypes

Wagner syndrome|Vitreoretinopathy

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.