Gene entry
SLC16A2
solute carrier family 16 member 2
- Chromosome
- X
- Cytoband
- Xq13.2
- Variants (rsID)
- 16
SLC16A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq13.2). Its official name is “solute carrier family 16 member 2”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs5937843Benignsingle nucleotide variantAllan-Herndon-Dudley syndrome
- rs145061343Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Intellectual disability|Hereditary spastic paraplegia
- rs104894936Pathogenicsingle nucleotide variantAllan-Herndon-Dudley syndrome
- rs122455132Pathogenicsingle nucleotide variantAllan-Herndon-Dudley syndrome|Intellectual disability
- rs387906501PathogenicMicrosatelliteAllan-Herndon-Dudley syndrome
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.