SLC12A6 Chromosome 15
Solute carrier family 12 member 6
Upload your DNA to see your personal genotypes for variants in SLC12A6.
What This Gene Does
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 12
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000140199
Associated Conditions (16)
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease
Inborn genetic diseases
SLC12A6-related disorder
axonal
IIa 2II
Peripheral neuropathy
See cases
Melanoma
Usher syndrome type 1C
Hypertelorism
Corpus callosum
agenesis of
Clinodactyly of the 5th finger
Abnormal facial shape
Low-set ears
Key Variants
RS1005396685
Conflicting classifications of pathogenicity
Health Risk
RS117540484
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS121908429
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS142496698
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS145615604
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS149640638
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS150751809
Conflicting classifications of pathogenicity
SLC12A6-related disorder, Charcot-Marie-Tooth disease, axonal
Health Risk
RS17236798
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS1894227805
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
RS199945338
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease, axonal
Health Risk
RS200110068
Conflicting classifications of pathogenicity
Health Risk
RS200544602
Conflicting classifications of pathogenicity
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
Health Risk
All Variants (224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908428 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder, Agenesis of the corpus callosum with peripheral neuropathy |
| RS1250850814 | Health Risk | Pathogenic | — |
| RS1275422176 | Health Risk | Pathogenic | — |
| RS1476605916 | Health Risk | Pathogenic | — |
| RS1481540503 | Health Risk | Pathogenic | — |
| RS1555381416 | Health Risk | Pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease, axonal |
| RS1891170502 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS1891297825 | Health Risk | Pathogenic | — |
| RS2140653469 | Health Risk | Pathogenic | — |
| RS2140654428 | Health Risk | Pathogenic | — |
| RS2140670011 | Health Risk | Pathogenic | — |
| RS2140670185 | Health Risk | Pathogenic | — |
| RS2140682156 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, axonal, IIa 2II |
| RS2140682314 | Health Risk | Pathogenic | — |
| RS2140682397 | Health Risk | Pathogenic | — |
| RS2140724562 | Health Risk | Pathogenic | — |
| RS2140724680 | Health Risk | Pathogenic | — |
| RS2140777637 | Health Risk | Pathogenic | — |
| RS2140778033 | Health Risk | Pathogenic | — |
| RS2509739366 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509743045 | Health Risk | Pathogenic | — |
| RS2509743068 | Health Risk | Pathogenic | — |
| RS2509743152 | Health Risk | Pathogenic | — |
| RS2509743422 | Health Risk | Pathogenic | — |
| RS2509750248 | Health Risk | Pathogenic | — |
| RS2509753449 | Health Risk | Pathogenic | — |
| RS2509753551 | Health Risk | Pathogenic | — |
| RS2509761579 | Health Risk | Pathogenic | — |
| RS2509767575 | Health Risk | Pathogenic | — |
| RS2509802539 | Health Risk | Pathogenic | — |
| RS2509816869 | Health Risk | Pathogenic | — |
| RS2509816917 | Health Risk | Pathogenic | — |
| RS2509820987 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, axonal, IIa 2II |
| RS2509832575 | Health Risk | Pathogenic | — |
| RS2509832921 | Health Risk | Pathogenic | — |
| RS2509833034 | Health Risk | Pathogenic | — |
| RS2510085252 | Health Risk | Pathogenic | — |
| RS2510085296 | Health Risk | Pathogenic | — |
| RS2510086646 | Health Risk | Pathogenic | — |
| RS2510086719 | Health Risk | Pathogenic | — |
| RS35583475 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS515726215 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease, axonal |
| RS515726216 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS515726217 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS515726218 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS573444140 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS606231229 | Health Risk | Pathogenic | Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease, Agenesis of the corpus callosum with peripheral neuropathy |
| RS767245568 | Health Risk | Pathogenic | — |
| RS780221317 | Health Risk | Pathogenic | — |
| RS934613592 | Health Risk | Pathogenic | — |