Variant (rsID / SNP)
rs794728319
rs794728319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,719,928. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 15:48719928
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
Associated conditions / phenotypes
Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Congenital aneurysm of ascending aorta|Acute aortic dissection|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Weill-Marchesani syndrome 2, dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.