Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs373510719

FBN1

rs373510719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,726,908. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FBN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:48726908
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
Allele change
Missense_T2167P

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome

Public references

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