KCNC1 Chromosome 11

Potassium voltage-gated channel subfamily C member 1
25 variants 25 Health Risk

Upload your DNA to see your personal genotypes for variants in KCNC1.

What This Gene Does
This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000129159
Associated Conditions (6)
Progressive myoclonic epilepsy type 7
Inborn genetic diseases
Hepatocellular carcinoma
KCNC1-related disorder
Seizure
Progressive myoclonic epilepsy
Key Variants
RS146311746
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
Health Risk
RS150993414
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
Health Risk
RS1554991338
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1849236683
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
Health Risk
RS2497800940
Conflicting classifications of pathogenicity
Inborn genetic diseases, Progressive myoclonic epilepsy type 7, Inborn genetic diseases
Health Risk
RS368573465
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Hepatocellular carcinoma
Health Risk
RS375362627
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
Health Risk
RS376363769
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
Health Risk
RS376505218
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
Health Risk
RS749790557
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
Health Risk
RS927483438
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
Health Risk
RS1057524670
Likely pathogenic
Inborn genetic diseases, Progressive myoclonic epilepsy type 7, KCNC1-related disorder
Health Risk
All Variants (25)
RSID Category Clinical Significance Conditions
RS146311746 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS150993414 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1554991338 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1849236683 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS2497800940 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS368573465 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Hepatocellular carcinoma
RS375362627 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS376363769 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS376505218 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS749790557 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS927483438 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS1057524670 Health Risk Likely pathogenic Inborn genetic diseases, Progressive myoclonic epilepsy type 7, KCNC1-related disorder
RS1485166517 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1565162623 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1590088831 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1590106815 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1849231544 Health Risk Likely pathogenic —
RS2133773932 Health Risk Likely pathogenic —
RS2497800432 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS756544748 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS2497800929 Health Risk Pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1085307785 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1554991378 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS2133805364 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Seizure, Progressive myoclonic epilepsy type 7
RS727502818 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Inborn genetic diseases, Progressive myoclonic epilepsy
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