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Variant (rsID / SNP)

rs137854467

FBN1

rs137854467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,892,414. 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
15:48892414
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
Allele change
Missense_R122C

Associated conditions / phenotypes

Marfan syndrome, atypical|Marfan syndrome|Cardiovascular phenotype|Aortic dissection|Arachnodactyly|Lens subluxation|High palate|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|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.