Variant (rsID / SNP)
rs150851401
rs150851401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A2. Location: chromosome 3, position 170,732,382. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC2A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:170732382
- Cytoband
- 3q26.2
- HGVS
- NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
- Allele change
- Silent
Associated conditions / phenotypes
Fanconi-Bickel syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
