Variant (rsID / SNP)

rs121912893

rs121912893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,377,504. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL2A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:48377504
Cytoband: 12q13.11
HGVS: NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
Allele change: Nonsense_R653X

Associated conditions / phenotypes

Stickler syndrome type 1|Autosomal dominant rhegmatogenous retinal detachment|14 conditions

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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