KCNH1 Chromosome 1

Potassium voltage-gated channel subfamily H member 1
60 variants 60 Health Risk

Upload your DNA to see your personal genotypes for variants in KCNH1.

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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|PAS domain containing"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000143473
Associated Conditions (13)
Inborn genetic diseases
Temple-Baraitser syndrome
KCNH1-related disorder
Zimmermann-Laband syndrome 1
KCNH1 associated disorder
Epilepsy
KCNH1-related phenotype
See cases
Neurodevelopmental disorder
Severe intellectual disability
Abnormal facial shape
Seizure
Intellectual disability
Key Variants
All Variants (60)
RSID Category Clinical Significance Conditions
RS116424709 Health Risk Conflicting classifications of pathogenicity
RS116585673 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1283810001 Health Risk Conflicting classifications of pathogenicity
RS1349830428 Health Risk Conflicting classifications of pathogenicity Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS1363207852 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, KCNH1-related disorder
RS1379093488 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139318016 Health Risk Conflicting classifications of pathogenicity
RS140043333 Health Risk Conflicting classifications of pathogenicity Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, Inborn genetic diseases
RS140435478 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, Inborn genetic diseases, KCNH1-related disorder
RS141442681 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553344875 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200444441 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102561817 Health Risk Conflicting classifications of pathogenicity
RS2527120727 Health Risk Conflicting classifications of pathogenicity KCNH1 associated disorder, KCNH1 associated disorder
RS2527120758 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS368605053 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372532077 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, Inborn genetic diseases, KCNH1-related disorder
RS377557048 Health Risk Conflicting classifications of pathogenicity
RS749800577 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750264852 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752044489 Health Risk Conflicting classifications of pathogenicity
RS752232888 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 1, Temple-Baraitser syndrome, Inborn genetic diseases
RS754172417 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, KCNH1-related disorder
RS754794236 Health Risk Conflicting classifications of pathogenicity KCNH1 associated disorder, KCNH1 associated disorder
RS759002369 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759201321 Health Risk Conflicting classifications of pathogenicity
RS759775665 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KCNH1-related disorder, Inborn genetic diseases
RS761754626 Health Risk Conflicting classifications of pathogenicity Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, Inborn genetic diseases
RS763802122 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769601481 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769677171 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770510070 Health Risk Conflicting classifications of pathogenicity
RS770912292 Health Risk Conflicting classifications of pathogenicity
RS773735492 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, Inborn genetic diseases, KCNH1-related disorder
RS775759879 Health Risk Conflicting classifications of pathogenicity
RS779813730 Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS1064794817 Health Risk Likely pathogenic
RS1558569964 Health Risk Likely pathogenic
RS1558570102 Health Risk Likely pathogenic KCNH1-related phenotype, KCNH1-related phenotype
RS1574266171 Health Risk Likely pathogenic
RS1684483227 Health Risk Likely pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS2102406873 Health Risk Likely pathogenic See cases, See cases
RS2526809987 Health Risk Likely pathogenic KCNH1-related disorder, KCNH1-related disorder
RS2526835712 Health Risk Likely pathogenic KCNH1-related disorder, KCNH1-related disorder
RS1553345948 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS2102400448 Health Risk Pathogenic
RS2102561385 Health Risk Pathogenic
RS2527120913 Health Risk Pathogenic
RS727502819 Health Risk Pathogenic Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, Temple-Baraitser syndrome
RS727502820 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
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