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Variant (rsID / SNP)

rs137854485

FBN1

rs137854485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,807,599. 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
15:48807599
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
Allele change
Missense_R485C

Associated conditions / phenotypes

Marfan syndrome, autosomal recessive|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection

Public references

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