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Variant (rsID / SNP)

rs886039550

FBN1

rs886039550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,812,961. 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
15:48812961
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
Allele change
Nonsense_Q348X

Associated conditions / phenotypes

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

Public references

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