Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

SLC7A7

solute carrier family 7 member 7

Chromosome
14
Cytoband
14q11.2
Variants (rsID)
65

SLC7A7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q11.2). Its official name is “solute carrier family 7 member 7”. The reference table lists 65 variants (rsID) for this gene.

Clinically classified variants

18 reference-table entries with clinical significance.

  • rs1061040Benignsingle nucleotide variantLysinuric protein intolerance
  • rs11568438Benignsingle nucleotide variantLysinuric protein intolerance|Autoinflammatory syndrome
  • rs17122776Benignsingle nucleotide variantLysinuric protein intolerance
  • rs1805061Benignsingle nucleotide variantLysinuric protein intolerance
  • rs11568423Conflicting interpretationssingle nucleotide variantLysinuric protein intolerance|Autoinflammatory syndrome
  • rs11568437Conflicting interpretationssingle nucleotide variantLysinuric protein intolerance|Autoinflammatory syndrome
  • rs139270936Conflicting interpretationssingle nucleotide variantLysinuric protein intolerance
  • rs139776370Conflicting interpretationssingle nucleotide variantLysinuric protein intolerance
  • rs151261004Conflicting interpretationssingle nucleotide variantLysinuric protein intolerance|Autoinflammatory syndrome
  • rs72552273Likely benignsingle nucleotide variantLysinuric protein intolerance
  • rs386833815Likely pathogenicsingle nucleotide variantLysinuric protein intolerance
  • rs121908678Pathogenicsingle nucleotide variantLysinuric protein intolerance
  • rs121908679Pathogenicsingle nucleotide variantLysinuric protein intolerance|Autoinflammatory syndrome
  • rs146582474Pathogenicsingle nucleotide variantLysinuric protein intolerance
  • rs386833805PathogenicDuplicationLysinuric protein intolerance
  • rs386833823Pathogenicsingle nucleotide variantLysinuric protein intolerance
  • rs386833795Uncertain significancesingle nucleotide variantLysinuric protein intolerance
  • rs386833814Uncertain significancesingle nucleotide variantLysinuric protein intolerance

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.