Variant (rsID / SNP)
rs878853913
rs878853913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,676,215. Clinical significance in the table: Pathogenic.
Reference-table entries
NF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 17:29676215
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.7269_7270del (p.His2423fs)
Associated conditions / phenotypes
Neurofibromatosis, type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.