Variant (rsID / SNP)

rs886038869

rs886038869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,707,778. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48707778
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
Allele change: Missense_G2669V

Associated conditions / phenotypes

Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|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.