Variant (rsID / SNP)
rs72667023
rs72667023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,275,531. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
COL1A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:48275531
- Cytoband
- 17q21.33
- HGVS
- NM_000088.4(COL1A1):c.579del (p.Gly194fs)
Associated conditions / phenotypes
Osteogenesis imperfecta|Osteogenesis imperfecta type I|Postmenopausal osteoporosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.