Variant (rsID / SNP)
rs794728195
rs794728195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,787,352. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48787352
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
- Allele change
- Missense_A882V
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Marfan syndrome|8 conditions|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Progeroid and marfanoid aspect-lipodystrophy syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.