Variant (rsID / SNP)
rs7221954
rs7221954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,592,550. Clinical significance in the table: Benign.
Reference-table entries
NF1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:29592550
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.4835+193T>C
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.