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Variant (rsID / SNP)

rs121912886

COL2A1

rs121912886 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,367,873. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL2A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:48367873
Cytoband
12q13.11
HGVS
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
Allele change
Missense_T1439M

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia congenita|Spondyloperipheral dysplasia

Public references

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