Variant (rsID / SNP)
rs193922197
rs193922197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,632. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 15:48780632
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
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.