Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs1060501017

FBN1

rs1060501017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,797,333. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48797333
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
Allele change
Missense_C617G

Associated conditions / phenotypes

Marfan syndrome|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.