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Variant (rsID / SNP)

rs2229792

COL11A2

rs2229792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,131,501. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL11A2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:33131501
Cytoband
6p21.32
HGVS
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
Allele change
Missense_P1636L

Associated conditions / phenotypes

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

Public references

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