Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs768831064

FBN1

rs768831064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,779,598. 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
15:48779598
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
Allele change
Missense_R1125Q

Associated conditions / phenotypes

Marfan syndrome|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.