{{Rsnum
|rsid = 28933383
|Gene = KCNA1
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Chromosome=12
|position=4912055
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNA1
}}{{omim
|desc=EPISODIC ATAXIA, TYPE 1
|id=176260
|rsnum=28933383
|variant=0013
}}
{{ neighbor
| rsid = 28933381
| distance = 47
}}

{{omim
|id=176260
|rsnum=28933383
|variant=0014
}}

{{ClinVar
|rsid=28933383
|Reversed=0
|FwdREF=C
|FwdALT=A,G,T
|REF=C
|ALT=A,G,T
|RSPOS=5021221
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110104
|GENEINFO=KCNA1:3736
|GENE_NAME=KCNA1
|GENE_ID=3736
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000012.11:g.5021221C>A; NC_000012.11:g.5021221C>G; NC_000012.11:g.5021221C>T
|CLNSRC=OMIM Allelic Variant; GeneReviews
|CLNORIGIN=1
|CLNSRCID=176260.0014; NBK25442; 176260.0013
|CLNCUI=.,C1719788; C1719788,C1719788
|CLNDBN=Myokymia 1; Episodic ataxia type 1
|Disease=Myokymia 1; Episodic ataxia type 1
|CLNACC=RCV000014437.23; RCV000014436.23; RCV000020219.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM;NOV
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C2674766; NBK25442:C1719788:160120:421182009
|CLNSIG=5
}}

{{PMID|18974877|OA=1
}} Modifier effects between regulatory and protein-coding variation.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}