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Variant (rsID / SNP)

rs777526851

FBN1

rs777526851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,791,196. 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
15:48791196
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
Allele change
Missense_T718M

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|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.