Variant (rsID / SNP)

rs869025407

rs869025407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,762,861. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:48762861
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
Allele change: Missense_E1477K

Associated conditions / phenotypes

Marfan syndrome

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.