Gene entry
SLC17A5
solute carrier family 17 member 5
- Chromosome
- 6
- Cytoband
- 6q13
- Variants (rsID)
- 20
SLC17A5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q13). Its official name is “solute carrier family 17 member 5”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs16883930Benignsingle nucleotide variantSalla disease|Sialic acid storage disease, severe infantile type
- rs34348416Benignsingle nucleotide variantSalla disease|Sialic acid storage disease, severe infantile type
- rs142553916Conflicting interpretationssingle nucleotide variantSialic acid storage disease, severe infantile type|Salla disease|Salla disease|Sialic acid storage disease, severe infantile type|Familial hypokalemia-hypomagnesemia
- rs386833996Likely pathogenicsingle nucleotide variantSalla disease
- rs1057517028Pathogenicsingle nucleotide variantSalla disease
- rs201284672Pathogenicsingle nucleotide variantSalla disease|Sialic acid storage disease, severe infantile type|Salla disease|Sialic acid storage disease, severe infantile type
- rs386833990Pathogenicsingle nucleotide variantSalla disease
- rs386833994PathogenicDeletionSialic acid storage disease, severe infantile type|Salla disease
- rs794729653PathogenicDeletionSalla disease|Sialic acid storage disease, severe infantile type
- rs80338794Pathogenicsingle nucleotide variantSalla disease|Sialic acid storage disease, severe infantile type|Salla disease|Sialic acid storage disease, severe infantile type
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.