Variant (rsID / SNP)

rs78488552

rs78488552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRN. Location: chromosome 8, position 31,012,237. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WRNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:31012237
Cytoband: 8p12
HGVS: NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
Allele change: Missense_T1262R

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.