Variant (rsID / SNP)
rs1800214
rs1800214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,267,454. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL1A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:48267454
- Cytoband
- 17q21.33
- HGVS
- NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
- Allele change
- Missense_P823A
Associated conditions / phenotypes
Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Inborn genetic diseases|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.