Variant (rsID / SNP)
rs794728315
rs794728315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,733,915. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FBN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 15:48733915
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.6163+2dup
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Marfan 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.