Variant (rsID / SNP)
rs727503057
rs727503057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,797,303. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48797303
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
- Allele change
- Missense_R627C
Associated conditions / phenotypes
Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|8 conditions|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|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.