Variant (rsID / SNP)
rs794728317
rs794728317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,729,246. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 15:48729246
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.