Variant (rsID / SNP)
rs42524
rs42524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,043,239. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:94043239
- Cytoband
- 7q21.3
- HGVS
- NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
- Allele change
- Missense_P549A
Associated conditions / phenotypes
Ehlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type III|Osteogenesis imperfecta, recessive perinatal lethal|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.