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Variant (rsID / SNP)

rs140630

FBN1

rs140630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,757,777. 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
15:48757777
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
Allele change
Nonsense_R1644X

Associated conditions / phenotypes

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

Public references

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