Variant (rsID / SNP)
rs74315499
rs74315499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,067,836. Clinical significance in the table: Pathogenic.
Reference-table entries
NF2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:30067836
- Cytoband
- 22q12.2
- HGVS
- NM_000268.4(NF2):c.1021C>T (p.Arg341Ter)
- Allele change
- Nonsense_R341X
Associated conditions / phenotypes
Neurofibromatosis, type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.