Variant (rsID / SNP)
rs140587
rs140587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,353. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FBN1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48780353
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
- Allele change
- Synonymous_D1098D
Associated conditions / phenotypes
Marfan syndrome|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Geleophysic dysplasia|Stiff skin syndrome|Acromicric dysplasia|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.