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Variant (rsID / SNP)

rs12720445

KCNA5

rs12720445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA5. Location: chromosome 12, position 5,155,046. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNA5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:5155046
Cytoband
12p13.32
HGVS
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
Allele change
Missense_R578K

Associated conditions / phenotypes

Atrial fibrillation, familial, 7|Brugada syndrome 1

Public references

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