Variant (rsID / SNP)
rs201159437
rs201159437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,355,519. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC2A10Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:45355519
- Cytoband
- 20q13.12
- HGVS
- NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
- Allele change
- Synonymous_L435L
Associated conditions / phenotypes
Arterial tortuosity syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
