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Variant (rsID / SNP)

rs121912870

COL2A1

rs121912870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,369,754. 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
12:48369754
Cytoband
12q13.11
HGVS
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
Allele change
Missense_G1197S

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia congenita|Spondyloepimetaphyseal dysplasia, Strudwick type|Stickler syndrome type 1|Namaqualand hip dysplasia|Connective tissue disorder

Public references

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