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Variant (rsID / SNP)

rs121912884

COL2A1

rs121912884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,379,358. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL2A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:48379358
Cytoband
12q13.11
HGVS
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
Allele change
Missense_R565C

Associated conditions / phenotypes

Stickler syndrome type 1|COL2A1-related disorders|Retinal dystrophy|Achondrogenesis type II|Stickler syndrome, type I, nonsyndromic ocular

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.