KCND3 Chromosome 1

Potassium voltage-gated channel subfamily D member 3
56 variants 56 Health Risk

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What This Gene Does
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000171385
Associated Conditions (10)
Spinocerebellar ataxia type 19/22
Brugada syndrome 9
Neurodevelopmental delay
Cardiovascular phenotype
KCND3-related disorder
Brugada syndrome
Intellectual disability
Seizure
Variant of unknown significance
Hereditary ataxia
Key Variants
RS1057521793
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 19/22, Brugada syndrome 9, Neurodevelopmental delay
Health Risk
RS1064794895
Conflicting classifications of pathogenicity
Health Risk
RS1167459243
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
Health Risk
RS1247179970
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
Health Risk
RS1294150954
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Neurodevelopmental delay, Cardiovascular phenotype
Health Risk
RS139901716
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
Health Risk
RS1411627342
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
Health Risk
RS142744204
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, KCND3-related disorder
Health Risk
RS144120746
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Brugada syndrome 9
Health Risk
RS149008060
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, KCND3-related disorder
Health Risk
RS149344567
Conflicting classifications of pathogenicity
Brugada syndrome 9, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
Health Risk
RS150401343
Conflicting classifications of pathogenicity
Brugada syndrome 9, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
Health Risk
All Variants (56)
RSID Category Clinical Significance Conditions
RS1057521793 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Brugada syndrome 9, Neurodevelopmental delay
RS1064794895 Health Risk Conflicting classifications of pathogenicity —
RS1167459243 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS1247179970 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS1294150954 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Neurodevelopmental delay, Cardiovascular phenotype
RS139901716 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS1411627342 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS142744204 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, KCND3-related disorder
RS144120746 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Brugada syndrome 9
RS149008060 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, KCND3-related disorder
RS149344567 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS150401343 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS151164490 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Brugada syndrome 9
RS1664228420 Health Risk Conflicting classifications of pathogenicity —
RS186194682 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS199637120 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS200212002 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS201340369 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS2101995228 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101997230 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS35027371 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS376408039 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS545602928 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752589615 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS762528364 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS771703569 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Brugada syndrome 9
RS771878661 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS774713377 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Brugada syndrome 9
RS775768536 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS778053688 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Brugada syndrome 9
RS778141653 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS867628133 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS974769346 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS1057518007 Health Risk Likely pathogenic —
RS1571939623 Health Risk Likely pathogenic Intellectual disability, Seizure, Intellectual disability
RS1674962966 Health Risk Likely pathogenic —
RS1674966041 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101995530 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101995572 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525053501 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525053579 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525696069 Health Risk Likely pathogenic —
RS2525698722 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525699283 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS397515478 Health Risk Likely pathogenic Variant of unknown significance, Spinocerebellar ataxia type 19/22, Variant of unknown significance
RS1057519453 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571636501 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571636508 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571939827 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571939905 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
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