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Variant (rsID / SNP)

rs1346043320

FBN1

rs1346043320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,737,605. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FBN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:48737605
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
Allele change
Missense_Y1962C

Associated conditions / phenotypes

Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome 2, dominant|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.