Variant (rsID / SNP)
rs17510310
rs17510310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,443,208. Clinical significance in the table: Likely benign.
Reference-table entries
REEP1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:86443208
- Cytoband
- 2p11.2
- HGVS
- NM_001371279.1(REEP1):c.*954G>A
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary spastic paraplegia 31
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
