Variant (rsID / SNP)
rs113295055
rs113295055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP7. Location: chromosome 12, position 53,722,362. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SP7Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53722362
- Cytoband
- 12q13.13
- HGVS
- NM_001173467.3(SP7):c.864G>A (p.Leu288=)
- Allele change
- Synonymous_L288L
Associated conditions / phenotypes
Osteogenesis imperfecta
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.