Variant (rsID / SNP)
rs377142129
rs377142129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,338,361. 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
- 20:45338361
- Cytoband
- 20q13.12
- HGVS
- NM_030777.4(SLC2A10):c.-15C>T
- Allele change
- Silent
Associated conditions / phenotypes
Arterial tortuosity syndrome|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.
