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Variant (rsID / SNP)

rs794728325

FBN1

rs794728325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,812,856. 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
15:48812856
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
Allele change
Missense_E383K

Associated conditions / phenotypes

Marfan syndrome|Inborn genetic diseases|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.