Variant (rsID / SNP)
rs137854460
rs137854460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,725,140. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48725140
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)
- Allele change
- Missense_C2221S
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.