Variant (rsID / SNP)

rs2116830

rs2116830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNMA1. Location: chromosome 10, position 78,646,536. Clinical significance in the table: Benign.

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Reference-table entries

KCNMA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:78646536
Cytoband: 10q22.3
HGVS: NM_001161352.2(KCNMA1):c.*488C>A
Allele change: Silent

Associated conditions / phenotypes

Generalized epilepsy-paroxysmal dyskinesia syndrome

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.