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Variant (rsID / SNP)

rs41268014

COL11A2

rs41268014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,156,845. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL11A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:33156845
Cytoband
6p21.32
HGVS
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
Allele change
Missense_R118P

Associated conditions / phenotypes

Stickler Syndrome, Dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Connective tissue disorder

Public references

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