Variant (rsID / SNP)
rs587776565
rs587776565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,032,830. Clinical significance in the table: Pathogenic.
Reference-table entries
NF2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 22:30032830
- Cytoband
- 22q12.2
- HGVS
- NM_000268.4(NF2):c.205_211del (p.Lys69fs)
Associated conditions / phenotypes
Schwannomatosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.