KCNH1 Chromosome 1
Potassium voltage-gated channel subfamily H member 1
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
RS116424709
Conflicting classifications of pathogenicity
Health Risk
RS116585673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1283810001
Conflicting classifications of pathogenicity
Health Risk
RS1349830428
Conflicting classifications of pathogenicity
Temple-Baraitser syndrome, Temple-Baraitser syndrome
Health Risk
RS1363207852
Conflicting classifications of pathogenicity
KCNH1-related disorder, KCNH1-related disorder
Health Risk
RS1379093488
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139318016
Conflicting classifications of pathogenicity
Health Risk
RS140043333
Conflicting classifications of pathogenicity
Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, Inborn genetic diseases
Health Risk
RS140435478
Conflicting classifications of pathogenicity
KCNH1-related disorder, Inborn genetic diseases, KCNH1-related disorder
Health Risk
RS141442681
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553344875
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200444441
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
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 |