Variant (rsID / SNP)

rs12720442

rs12720442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA5. Location: chromosome 12, position 5,154,064. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNA5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:5154064
Cytoband: 12p13.32
HGVS: NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)
Allele change: Missense_A251T

Associated conditions / phenotypes

Atrial fibrillation, familial, 7

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.