KCNC3 Chromosome 19
Potassium voltage-gated channel subfamily C member 3
Upload your DNA to see your personal genotypes for variants in KCNC3.
What This Gene Does
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000131398
Associated Conditions (6)
Inborn genetic diseases
Spinocerebellar ataxia type 13
Tip-toe gait
KCNC3-related disorder
Cleft palate
Hereditary ataxia
Key Variants
RS1034583217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519247
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1326942763
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 13, Inborn genetic diseases
Health Risk
RS148033381
Conflicting classifications of pathogenicity
Health Risk
RS199833067
Conflicting classifications of pathogenicity
Health Risk
RS368232448
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 13, Inborn genetic diseases
Health Risk
RS375782591
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS558106649
Conflicting classifications of pathogenicity
Health Risk
RS568711737
Conflicting classifications of pathogenicity
Health Risk
RS747618525
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 13, Tip-toe gait, Spinocerebellar ataxia type 13
Health Risk
RS761806977
Conflicting classifications of pathogenicity
Inborn genetic diseases, KCNC3-related disorder, Inborn genetic diseases
Health Risk
RS764571894
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 13, Inborn genetic diseases, Cleft palate
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1034583217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519247 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1326942763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia type 13, Inborn genetic diseases |
| RS148033381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199833067 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368232448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia type 13, Inborn genetic diseases |
| RS375782591 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS558106649 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS568711737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747618525 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 13, Tip-toe gait, Spinocerebellar ataxia type 13 |
| RS761806977 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KCNC3-related disorder, Inborn genetic diseases |
| RS764571894 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 13, Inborn genetic diseases, Cleft palate |
| RS770686560 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13 |
| RS927538730 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS969993818 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064795793 | Health Risk | Likely pathogenic | — |
| RS1408825410 | Health Risk | Likely pathogenic | — |
| RS2037067131 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13 |
| RS2513799489 | Health Risk | Likely pathogenic | — |
| RS371116909 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS104894699 | Health Risk | Pathogenic | Spinocerebellar ataxia type 13, Hereditary ataxia, Spinocerebellar ataxia type 13 |
| RS104894700 | Health Risk | Pathogenic | Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13 |
| RS1555781806 | Health Risk | Pathogenic | Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13 |
| RS797044872 | Health Risk | Pathogenic | Inborn genetic diseases, Spinocerebellar ataxia type 13, Inborn genetic diseases |
| RS879253883 | Health Risk | Pathogenic | Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13 |