SLC7A7 Chromosome 14

Solute carrier family 7 member 7
143 variants 143 Health Risk

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What This Gene Does
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
Solute carrier family 7
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000155465
Associated Conditions (5)
Lysinuric protein intolerance
Autoinflammatory syndrome
SLC7A7-related disorder
Inborn genetic diseases
Colon adenocarcinoma
Key Variants
RS1043886041
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS11568423
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, SLC7A7-related disorder
Health Risk
RS11568437
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS1239008031
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS1253918930
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS1284258930
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS139270936
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS139619724
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
Health Risk
RS139776370
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Lysinuric protein intolerance
Health Risk
RS142956369
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
Health Risk
RS143575981
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
Health Risk
RS146280056
Conflicting classifications of pathogenicity
Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
Health Risk
All Variants (143)
RSID Category Clinical Significance Conditions
RS1043886041 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS11568423 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, SLC7A7-related disorder
RS11568437 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Inborn genetic diseases
RS1239008031 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1253918930 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1284258930 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS139270936 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS139619724 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS139776370 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS142956369 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
RS143575981 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS146280056 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
RS146720775 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS146945921 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS151261004 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS201611215 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases, Lysinuric protein intolerance
RS2501974931 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS367673752 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833792 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833793 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833810 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS531862402 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS539843065 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Colon adenocarcinoma
RS573454071 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS750720946 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome, Lysinuric protein intolerance
RS765682604 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS777682875 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS121908676 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance, Lysinuric protein intolerance
RS1264298481 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance, Lysinuric protein intolerance
RS1271213967 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1479668615 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1489021418 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2038542991 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501829507 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832537 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832595 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501835633 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501836317 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501841517 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501841902 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501842233 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501842561 Health Risk Likely pathogenic SLC7A7-related disorder, Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501844440 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501844566 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501847126 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501860074 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501860374 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501974273 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975599 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975686 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
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