Variant (rsID / SNP)
rs794728313
rs794728313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,736,817. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 15:48736817
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.5957dup (p.Gly1987fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.