Variant (rsID / SNP)
rs1127291
rs1127291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,213,989. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LRP5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:68213989
- Cytoband
- 11q13.2
- HGVS
- NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
- Allele change
- Missense_A1525V
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.