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Variant (rsID / SNP)

rs113001196

FBN1

rs113001196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,725,144. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48725144
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
Allele change
Nonsense_R2220X

Associated conditions / phenotypes

Marfan syndrome|Inborn genetic diseases|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Isolated thoracic aortic aneurysm

Public references

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