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Variant (rsID / SNP)

rs193922233

FBN1

rs193922233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,717,607. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBN1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
15:48717607
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
Allele change
Missense_P2471R

Associated conditions / phenotypes

Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|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.