Variant (rsID / SNP)

rs2229784

rs2229784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,136,310. 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: 6:33136310
Cytoband: 6p21.32
HGVS: NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr)
Allele change: Missense_P1230T

Associated conditions / phenotypes

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

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.