HCN1 Chromosome 5
Hyperpolarization activated cyclic nucleotide gated potassium channel 1
Upload your DNA to see your personal genotypes for variants in HCN1.
What This Gene Does
The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
5p12
Ensembl
ENSG00000164588
Associated Conditions (11)
Developmental and epileptic encephalopathy
24
Early-infantile DEE
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus
type 10
HCN1-related disorder
Epileptic encephalopathy
Febrile seizure (within the age range of 3 months to 6 years)
Seizure
Color vision defect
Key Variants
RS10066808
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 24, Early-infantile DEE
Health Risk
RS1052640717
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1156299203
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1244303801
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1282221978
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS1293979204
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1335934380
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1394225411
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1469192494
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 24, Inborn genetic diseases
Health Risk
RS1485709375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 24
Health Risk
RS150936707
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 24, Early-infantile DEE
Health Risk
RS1561230533
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2112040707 | Health Risk | Likely pathogenic | — |
| RS2478007024 | Health Risk | Likely pathogenic | HCN1-related disorder, HCN1-related disorder |
| RS2478007054 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 24, Developmental and epileptic encephalopathy |
| RS2478145394 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2478145468 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2478543204 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 24, Developmental and epileptic encephalopathy |
| RS2478543222 | Health Risk | Likely pathogenic | — |
| RS2478543843 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 24, Developmental and epileptic encephalopathy |
| RS765728211 | Health Risk | Likely pathogenic | — |
| RS1057519547 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 24 |
| RS1318391259 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS1554037381 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1561081319 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS1561120793 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS1561139569 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Developmental and epileptic encephalopathy |
| RS1561230486 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS1561230606 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS1745671912 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 24, Developmental and epileptic encephalopathy |
| RS2112031854 | Health Risk | Pathogenic | Febrile seizure (within the age range of 3 months to 6 years), Seizure, Color vision defect |
| RS2112040633 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS2112040676 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Generalized epilepsy with febrile seizures plus |
| RS2112040738 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 10, Early-infantile DEE |
| RS2478006956 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2478543697 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS587777493 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 24, Developmental and epileptic encephalopathy |
| RS587777494 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 24, Early-infantile DEE |
| RS763339068 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS587777492 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 24, Generalized epilepsy with febrile seizures plus |
| RS587777495 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 24, Early-infantile DEE |