Variant (rsID / SNP)

rs28933381

rs28933381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA1. Location: chromosome 12, position 5,021,268. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:5021268
Cytoband: 12p13.32
HGVS: NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro)
Allele change: Missense_A242P

Associated conditions / phenotypes

Myokymia 1

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.