Variant (rsID / SNP)

rs1346044

rs1346044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 31,024,654. 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: 8:31024654
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
Allele change: Missense_C1367R

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.