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Variant (rsID / SNP)

rs770443276

FBN1

rs770443276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,720,623. 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
15:48720623
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
Allele change
Missense_R2306H

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Connective tissue disorder|Marfan syndrome

Public references

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