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Variant (rsID / SNP)

rs794728902

SCN5A

rs794728902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,674,742. Clinical significance in the table: Pathogenic.

Reference-table entries

SCN5APathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
3:38674742
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.57del (p.Glu19fs)

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.