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Variant (rsID / SNP)

rs137854464

FBN1

rs137854464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,717,680. 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
15:48717680
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
Allele change
Missense_E2447K

Associated conditions / phenotypes

Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder

Public references

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