Variant (rsID / SNP)
rs587776902
rs587776902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARF2. Location: chromosome 22, position 20,783,918. Clinical significance in the table: Pathogenic.
Reference-table entries
SCARF2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 22:20783918
- Cytoband
- 22q11.21
- HGVS
- NM_182895.5(SCARF2):c.1328_1329del (p.Val443fs)
Associated conditions / phenotypes
Van den Ende-Gupta syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.