Variant (rsID / SNP)

rs886041349

rs886041349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,796,071. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 15:48796071
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs)

Associated conditions / phenotypes

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.