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
RS114371269 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS140595322 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS142740233 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS199934904 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS200191107 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Epilepsy
RS201268862 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Epilepsy
RS201525976 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Epilepsy
RS2084546474 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084595386 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515634781 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS546939045 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS749336515 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS751494861 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS755363281 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS760459724 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS762852631 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Epilepsy
RS763907201 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS764791575 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS767708918 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, SLC12A5-related disorder
RS770196677 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS142641765 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS1555868402 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084483775 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084696977 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145497450 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515631656 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515637434 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515641952 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS863225304 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS863225305 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS1555863145 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS1555863593 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS1600590580 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084424489 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084424722 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084489672 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2084648529 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145484584 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145493702 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145496676 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145496726 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145502127 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145503665 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145503701 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2145507682 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515639213 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515639218 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515641701 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515644515 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
RS2515649366 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34, Developmental and epileptic encephalopathy
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