Variant (rsID / SNP)

rs12721427

rs12721427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,368,541. Clinical significance in the table: Benign.

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Reference-table entries

COL2A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:48368541
Cytoband: 12q13.11
HGVS: NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)
Allele change: Missense_V1331I

Associated conditions / phenotypes

Stickler syndrome type 1|Type II Collagenopathies

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.