Variant (rsID / SNP)

rs77281462

rs77281462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA5. Location: chromosome 12, position 5,153,947. 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: 12:5153947
Cytoband: 12p13.32
HGVS: NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys)
Allele change: Missense_R212C

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.