Variant (rsID / SNP)
rs201823490
rs201823490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,380,213. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL2A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:48380213
- Cytoband
- 12q13.11
- HGVS
- NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)
- Allele change
- Missense_P478L
Associated conditions / phenotypes
Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.