Variant (rsID / SNP)
rs201273753
rs201273753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,764,814. 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
- 15:48764814
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
- Allele change
- Missense_P1424A
Associated conditions / phenotypes
Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Congenital aneurysm of ascending aorta|Acute aortic dissection|8 conditions|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Stiff skin syndrome|Geleophysic dysplasia|Acromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.