Variant (rsID / SNP)

rs886039549

rs886039549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,409. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 15:48780409
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.3238del (p.Leu1080fs)

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.