KCNH5 Chromosome 14
Potassium voltage-gated channel subfamily H member 5
Upload your DNA to see your personal genotypes for variants in KCNH5.
What This Gene Does
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"Potassium voltage-gated channels|PAS domain containing"
Locus Type
gene with protein product
Location
14q23.2
Ensembl
ENSG00000140015
Associated Conditions (5)
Inborn genetic diseases
Early-infantile DEE
Developmental and epileptic encephalopathy 112
Developmental and epileptic encephalopathy
12
Key Variants
RS114447363
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS140205536
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS143775193
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS143926897
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1457212190
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS148812753
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS149561461
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1566681333
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS199774231
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS2502653172
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS34764419
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS372185345
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114447363 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS140205536 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS143775193 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS143926897 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1457212190 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS148812753 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS149561461 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1566681333 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS199774231 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS2502653172 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS34764419 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS372185345 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS374202650 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS557868420 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE |
| RS754761406 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS760127525 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy 112, Early-infantile DEE, Developmental and epileptic encephalopathy 112 |
| RS761523326 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS762196737 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS764675404 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS79913182 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1164997707 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2502867311 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 112, Developmental and epileptic encephalopathy 112 |
| RS1294653855 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1383017734 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy 112 |
| RS2502654819 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2502867213 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2503044340 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS587777164 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 112, Inborn genetic diseases, Developmental and epileptic encephalopathy |