Variant (rsID / SNP)
rs142352627
rs142352627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,055,130. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL1A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:94055130
- Cytoband
- 7q21.3
- HGVS
- NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
- Allele change
- Synonymous_P968P
Associated conditions / phenotypes
Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, classic type, 1|Ehlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.