Variant (rsID / SNP)
rs121912873
rs121912873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,371,410. Clinical significance in the table: Pathogenic.
Reference-table entries
COL2A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 12:48371410
- Cytoband
- 12q13.11
- HGVS
- NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
Associated conditions / phenotypes
Stickler syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.