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Variant (rsID / SNP)

rs794727533

COL2A1

rs794727533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,377,499. 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
12:48377499
Cytoband
12q13.11
HGVS
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
Allele change
Synonymous_G654G

Public references

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