Variant (rsID / SNP)
rs146726731
rs146726731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,812,976. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48812976
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
- Allele change
- Missense_G343R
Associated conditions / phenotypes
Marfan syndrome|Acromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Geleophysic dysplasia|Weill-Marchesani syndrome|Familial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.