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Variant (rsID / SNP)

rs1799911

COL11A2

rs1799911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,138,677. Clinical significance in the table: Benign.

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Reference-table entries

COL11A2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
6:33138677
Cytoband
6p21.32
HGVS
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)
Allele change
Synonymous_P1042P

Associated conditions / phenotypes

Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Stickler Syndrome, Dominant|Autosomal dominant nonsyndromic hearing loss 13|Autosomal recessive nonsyndromic hearing loss 53

Public references

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