Variant (rsID / SNP)
rs193922205
rs193922205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,760,724. 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
- 15:48760724
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
- Allele change
- Missense_N1489K
Associated conditions / phenotypes
Marfan syndrome|Acute aortic dissection|Congenital aneurysm of ascending aorta|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.