Variant (rsID / SNP)
rs199522781
rs199522781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,713,793. 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
- 15:48713793
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
- Allele change
- Missense_R2554Q
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Acromicric dysplasia|Weill-Marchesani syndrome|Stiff skin syndrome|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.