Variant (rsID / SNP)

rs2287926

rs2287926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCAN. Location: chromosome 5, position 82,815,408. Clinical significance in the table: Benign.

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Reference-table entries

VCANBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:82815408
Cytoband: 5q14.3
HGVS: NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)
Allele change: Missense_G428D

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.