Variant (rsID / SNP)
rs864622059
rs864622059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,410,452. Clinical significance in the table: Pathogenic.
Reference-table entries
NOTCH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 9:139410452
- Cytoband
- 9q34.3
- HGVS
- NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)
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.