Variant (rsID / SNP)
rs140650
rs140650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,752,429. 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
- 15:48752429
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.5296+14G>A
- Allele change
- Silent
Associated conditions / phenotypes
Weill-Marchesani syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Geleophysic dysplasia|Stiff skin syndrome|Marfan syndrome|Ectopia lentis 1, isolated, autosomal dominant|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.