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Variant (rsID / SNP)

rs112989722

FBN1

rs112989722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,729,544. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48729544
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
Allele change
Synonymous_I2118I

Associated conditions / phenotypes

Marfan syndrome|Cardiovascular phenotype|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|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.