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Variant (rsID / SNP)

rs397515847

FBN1

rs397515847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,719,800. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FBN1Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48719800
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
Allele change
Missense_C2390R

Associated conditions / phenotypes

Marfan syndrome|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|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.