COL9A3 Chromosome 20
Collagen type IX alpha 3 chain
Upload your DNA to see your personal genotypes for variants in COL9A3.
What This Gene Does
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Collagen proteoglycans|Fibril associated collagens with interrupted triple helices"
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000092758
Associated Conditions (16)
Epiphyseal dysplasia
multiple
3
Inborn genetic diseases
COL9A3-related disorder
Uterine carcinosarcoma
Clear cell carcinoma of kidney
Stickler syndrome
Intervertebral disc disorder
type 6
Connective tissue disorder
Skeletal dysplasia
Lattice retinal degeneration
Retinal detachment
Autosomal recessive Stickler syndrome
with myopathy
Key Variants
RS1027769042
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 3
Health Risk
RS1273555684
Conflicting classifications of pathogenicity
Health Risk
RS1324157182
Conflicting classifications of pathogenicity
COL9A3-related disorder, COL9A3-related disorder
Health Risk
RS1375432712
Conflicting classifications of pathogenicity
Health Risk
RS138648117
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL9A3-related disorder, Inborn genetic diseases
Health Risk
RS140377811
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144292707
Conflicting classifications of pathogenicity
Uterine carcinosarcoma, Clear cell carcinoma of kidney, Uterine carcinosarcoma
Health Risk
RS145821912
Conflicting classifications of pathogenicity
Inborn genetic diseases, Stickler syndrome, Inborn genetic diseases
Health Risk
RS146578812
Conflicting classifications of pathogenicity
Health Risk
RS147134081
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149582526
Conflicting classifications of pathogenicity
Health Risk
RS150153886
Conflicting classifications of pathogenicity
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758064613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Skeletal dysplasia, Inborn genetic diseases |
| RS766029215 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768927833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770709536 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771645717 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776017580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776395616 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776587206 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777240987 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1384292566 | Health Risk | Likely pathogenic | Lattice retinal degeneration, Retinal detachment, Lattice retinal degeneration |
| RS1555821817 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS1600786748 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS1991037713 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS2063547889 | Health Risk | Likely pathogenic | Autosomal recessive Stickler syndrome, Autosomal recessive Stickler syndrome |
| RS2147195548 | Health Risk | Likely pathogenic | — |
| RS2147208638 | Health Risk | Likely pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS2516030998 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS2516087034 | Health Risk | Likely pathogenic | — |
| RS759213760 | Health Risk | Likely pathogenic | — |
| RS1219321065 | Health Risk | Pathogenic | — |
| RS1293618149 | Health Risk | Pathogenic | — |
| RS1423359801 | Health Risk | Pathogenic | COL9A3-related disorder, COL9A3-related disorder |
| RS1470627424 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS1600786629 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS2063514857 | Health Risk | Pathogenic | — |
| RS2063643169 | Health Risk | Pathogenic | — |
| RS2147195552 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS2147208658 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS2147214451 | Health Risk | Pathogenic | — |
| RS2516015591 | Health Risk | Pathogenic | — |
| RS2516029074 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS2516037509 | Health Risk | Pathogenic | — |
| RS2516057594 | Health Risk | Pathogenic | — |
| RS606231367 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 3 |
| RS606231470 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS747896279 | Health Risk | Pathogenic | Inborn genetic diseases, Stickler syndrome, type 6 |
| RS754585468 | Health Risk | Pathogenic | — |
| RS757363127 | Health Risk | Pathogenic | — |
| RS761166747 | Health Risk | Pathogenic | — |
| RS763259234 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS766668875 | Health Risk | Pathogenic | — |
| RS989413835 | Health Risk | Pathogenic | Stickler syndrome, type 6, Stickler syndrome |
| RS1201247953 | Health Risk | Pathogenic/Likely pathogenic | Stickler syndrome, type 6, Epiphyseal dysplasia |
| RS2147205530 | Health Risk | Pathogenic/Likely pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS764718355 | Health Risk | Pathogenic/Likely pathogenic | — |