KCNMA1 Chromosome 10
Potassium calcium-activated channel subfamily M alpha 1
Upload your DNA to see your personal genotypes for variants in KCNMA1.
What This Gene Does
This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000156113
Associated Conditions (14)
Generalized epilepsy-paroxysmal dyskinesia syndrome
KCNMA1-related disorder
Cerebellar atrophy
developmental delay
and seizures
Epilepsy
idiopathic generalized
susceptibility to
16
Liang-Wang syndrome
Inborn genetic diseases
Infantile epileptic dyskinetic encephalopathy
Intellectual disability
Autism spectrum disorder
Key Variants
RS1043608536
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS115273369
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1350886458
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS139309224
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS142210216
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143562140
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143599540
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS144215383
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1445232499
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS145048715
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147369374
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147378590
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS563967757 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS572827902 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS61736948 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS74699271 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS748427000 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS749265202 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Epilepsy |
| RS750804948 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS75116272 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS75138661 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS75207686 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS752873857 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS754606765 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Cerebellar atrophy |
| RS755284666 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS75843969 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS759136661 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS760628050 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Infantile epileptic dyskinetic encephalopathy, Inborn genetic diseases |
| RS763267420 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS766964098 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS767569709 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS768769748 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS776877666 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS779629574 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS779739159 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS780558929 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS78544619 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS79155047 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS80266334 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS886047268 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS907422214 | Health Risk | Conflicting classifications of pathogenicity | Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS1348741432 | Health Risk | Likely pathogenic | Cerebellar atrophy, developmental delay, and seizures |
| RS1407652513 | Health Risk | Likely pathogenic | — |
| RS1565091862 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS1603639319 | Health Risk | Likely pathogenic | — |
| RS2049489016 | Health Risk | Likely pathogenic | Intellectual disability, Liang-Wang syndrome, Intellectual disability |
| RS2090875352 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2094531972 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2096271045 | Health Risk | Likely pathogenic | Cerebellar atrophy, developmental delay, and seizures |
| RS2153792212 | Health Risk | Likely pathogenic | Liang-Wang syndrome, Liang-Wang syndrome |
| RS2154251764 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2154465020 | Health Risk | Likely pathogenic | — |
| RS2549038309 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2549937925 | Health Risk | Likely pathogenic | KCNMA1-related disorder, KCNMA1-related disorder |
| RS2550658119 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2551714172 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2551802036 | Health Risk | Likely pathogenic | KCNMA1-related disorder, KCNMA1-related disorder |
| RS863224885 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS1328294721 | Health Risk | Pathogenic | Cerebellar atrophy, developmental delay, and seizures |
| RS137853333 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS1554966197 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2063502424 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |