Variant (rsID / SNP)

rs2230011

rs2230011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,969,283. 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: 8:30969283
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.2241T>G (p.Leu747=)
Allele change: Synonymous_L747L

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.