Variant (rsID / SNP)

rs142346721

rs142346721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,921,921. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WRNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:30921921
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.326G>A (p.Cys109Tyr)
Allele change: Missense_C109Y

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.