Variant (rsID / SNP)
rs864622061
rs864622061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,399,403. Clinical significance in the table: Pathogenic.
Reference-table entries
NOTCH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 9:139399403
- Cytoband
- 9q34.3
- HGVS
- NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)
Associated conditions / phenotypes
Adams-Oliver syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.