Variant (rsID / SNP)
rs368726848
rs368726848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,299. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FBN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48780299
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3337+11G>A
- Allele change
- Silent
Associated conditions / phenotypes
Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Stiff skin syndrome|Acromicric dysplasia|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Geleophysic dysplasia|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.