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Variant (rsID / SNP)

rs369294972

FBN1

rs369294972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,713,794. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBN1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
15:48713794
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
Allele change
Missense_R2554W

Associated conditions / phenotypes

Marfan syndrome, incomplete|Familial thoracic aortic aneurysm and aortic dissection|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.