Variant (rsID / SNP)
rs141133182
rs141133182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,707,932. Clinical significance in the table: Uncertain significance.
Reference-table entries
FBN1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48707932
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
- Allele change
- Missense_G2618R
Associated conditions / phenotypes
Marfan syndrome|Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|8 conditions|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.