Variant (rsID / SNP)

rs2230009

rs2230009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,921,935. 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: 8:30921935
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.340G>A (p.Val114Ile)
Allele change: Missense_V114I

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.