Variant (rsID / SNP)
rs72653173
rs72653173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,266,126. Clinical significance in the table: Pathogenic.
Reference-table entries
COL1A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:48266126
- Cytoband
- 17q21.33
- HGVS
- NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
- Allele change
- Nonsense_R1026X
Associated conditions / phenotypes
Osteogenesis imperfecta|Osteogenesis imperfecta type I|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Abnormality of the skeletal system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.