Variant (rsID / SNP)
rs201323237
rs201323237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,353,912. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SLC2A10Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:45353912
- Cytoband
- 20q13.12
- HGVS
- NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)
- Allele change
- Synonymous_L79L
Associated conditions / phenotypes
Arterial tortuosity syndrome|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
