Gene entry
SLC5A7
solute carrier family 5 member 7
- Chromosome
- 2
- Cytoband
- 2q12.3
- Variants (rsID)
- 14
SLC5A7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q12.3). Its official name is “solute carrier family 5 member 7”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs3731684Benignsingle nucleotide variantNeuronopathy, distal hereditary motor, type 7A|Congenital myasthenic syndrome 20
- rs199693962Uncertain significancesingle nucleotide variantCongenital myasthenic syndrome 20|Neuronopathy, distal hereditary motor, type 7A
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.