Variant (rsID / SNP)

rs3087425

rs3087425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,977,810. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WRNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:30977810
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
Allele change: Missense_R834C

Associated conditions / phenotypes

Werner 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.