Variant (rsID / SNP)

rs142908193

rs142908193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNA1. Location: chromosome 12, position 5,022,260. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:5022260
Cytoband: 12p13.32
HGVS: NM_000217.3(KCNA1):c.*228A>C
Allele change: Silent

Associated conditions / phenotypes

Hereditary episodic ataxia|Episodic ataxia type 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.