Variant (rsID / SNP)
rs587782947
rs587782947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,738,908. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48738908
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)
- Allele change
- Missense_C1928F
Associated conditions / phenotypes
Marfan syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.