Variant (rsID / SNP)
rs140598
rs140598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,779,530. Clinical significance in the table: Benign.
Reference-table entries
FBN1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48779530
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
- Allele change
- Missense_P1148A
Associated conditions / phenotypes
Marfan syndrome|FNB1 POLYMORPHISM|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Stiff skin syndrome|Geleophysic dysplasia|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.