SLC12A5 Chromosome 20

Solute carrier family 12 member 5
56 variants 56 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC12A5.

What This Gene Does
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
Gene Info
Gene Group
Solute carrier family 12
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000124140
Associated Conditions (8)
Developmental and epileptic encephalopathy
34
Epilepsy
idiopathic generalized
susceptibility to
14
SLC12A5-related disorder
Intellectual disability
Key Variants
RS114371269
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS140595322
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS142740233
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS199934904
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS200191107
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Epilepsy
Health Risk
RS201268862
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Epilepsy
Health Risk
RS201525976
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Epilepsy
Health Risk
RS2084546474
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS2084595386
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS2515634781
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS546939045
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
RS749336515
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
Health Risk
All Variants (56)
RSID Category Clinical Significance Conditions
RS2515652318 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515654961 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS766589514 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS771263913 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS863225306 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515653495 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
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