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Variant (rsID / SNP)

rs730880099

FBN1

rs730880099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,802,322. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48802322
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
Allele change
Missense_R545C

Associated conditions / phenotypes

Marfan syndrome|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|8 conditions

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.