Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs370161725

FBN1

rs370161725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,762,853. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FBN1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
15:48762853
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
Allele change
Missense_D1479E

Associated conditions / phenotypes

Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.