Variant (rsID / SNP)
rs137854478
rs137854478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,430. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48780430
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
- Allele change
- Missense_E1073K
Associated conditions / phenotypes
Neonatal Marfan syndrome|Marfan syndrome|Loeys-Dietz syndrome|Cardiovascular phenotype|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.