Variant (rsID / SNP)

rs397515821

rs397515821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,744,867. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48744867
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
Allele change: Nonsense_Q1813X

Associated conditions / phenotypes

Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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