Variant (rsID / SNP)
rs72645347
rs72645347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,273,698. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
COL1A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:48273698
- Cytoband
- 17q21.33
- HGVS
- NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
- Allele change
- Missense_R312C
Associated conditions / phenotypes
Ehlers-Danlos syndrome, classic type|Bruising susceptibility|Fragile skin|Joint hypermobility|Osteogenesis imperfecta type I|Osteogenesis imperfecta with normal sclerae, dominant form|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.