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Variant (rsID / SNP)

rs397514558

FBN1

rs397514558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,782,210. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48782210
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
Allele change
Missense_R974C

Associated conditions / phenotypes

Marfan syndrome|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Public references

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