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Variant (rsID / SNP)

rs1064794130

FBN1

rs1064794130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,703,274. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
15:48703274
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)

Associated conditions / phenotypes

Marfan syndrome|Marfan syndrome|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.