Variant (rsID / SNP)
rs5404
rs5404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A2. Location: chromosome 3, position 170,724,955. Clinical significance in the table: Benign.
Reference-table entries
SLC2A2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:170724955
- Cytoband
- 3q26.2
- HGVS
- NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)
- Allele change
- Synonymous_T79T
Associated conditions / phenotypes
Fanconi-Bickel syndrome|Type 2 diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
