Variant (rsID / SNP)
rs1064794139
rs1064794139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,720,670. Clinical significance in the table: Pathogenic.
Reference-table entries
FBN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48720670
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.6872-2A>G
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.