Variant (rsID / SNP)

rs794728203

rs794728203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,779,628. 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: 15:48779628
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
Allele change: Missense_D1115G

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.