Variant (rsID / SNP)

rs112469769

rs112469769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,393,781. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL2A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:48393781
Cytoband: 12q13.11
HGVS: NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
Allele change: Synonymous_D71D

Associated conditions / phenotypes

Type II Collagenopathies|Stickler syndrome type 1|Connective tissue disorder

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.