Variant (rsID / SNP)

rs1800392

rs1800392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 30,973,957. Clinical significance in the table: Benign.

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Reference-table entries

WRNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:30973957
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.2361G>T (p.Leu787=)
Allele change: Synonymous_L787L

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.