COL2A1 Chromosome 12
Collagen type II alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL2A1.
What This Gene Does
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
12q13.11
Ensembl
ENSG00000139219
Associated Conditions (66)
15 conditions
Inborn genetic diseases
Stickler syndrome type 1
Intellectual disability
Type 2 collagenopathy
Retinal dystrophy
Stickler syndrome
type I
nonsyndromic ocular
Spondyloepiphyseal dysplasia congenita
Spondyloperipheral dysplasia
COL2A1-related disorder
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Connective tissue disorder
Avascular necrosis of femoral head
primary
1
Hearing impairment
Melanoma
Achondrogenesis type II
+46 more conditions
Key Variants
RS1041494793
Conflicting classifications of pathogenicity
Health Risk
RS1064793352
Conflicting classifications of pathogenicity
Health Risk
RS113238468
Conflicting classifications of pathogenicity
15 conditions, 15 conditions
Health Risk
RS1161207534
Conflicting classifications of pathogenicity
Health Risk
RS1178264170
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1180226091
Conflicting classifications of pathogenicity
Stickler syndrome type 1, Intellectual disability, Inborn genetic diseases
Health Risk
RS1181216326
Conflicting classifications of pathogenicity
Health Risk
RS1197381768
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1200816320
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS1203369669
Conflicting classifications of pathogenicity
Health Risk
RS121912885
Conflicting classifications of pathogenicity
Stickler syndrome, type I, nonsyndromic ocular
Health Risk
RS121912886
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia congenita, Spondyloperipheral dysplasia, COL2A1-related disorder
Health Risk
All Variants (1033)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540169004 | Health Risk | Likely pathogenic | Kniest dysplasia, Stickler syndrome type 1, Kniest dysplasia |
| RS2540169027 | Health Risk | Likely pathogenic | COL2A1-related disorder, COL2A1-related disorder |
| RS2540169048 | Health Risk | Likely pathogenic | — |
| RS2540169164 | Health Risk | Likely pathogenic | — |
| RS2540174470 | Health Risk | Likely pathogenic | — |
| RS2540174508 | Health Risk | Likely pathogenic | Type 2 collagenopathy, Type 2 collagenopathy |
| RS2540175271 | Health Risk | Likely pathogenic | — |
| RS2540175331 | Health Risk | Likely pathogenic | Platyspondylic dysplasia, Torrance type, Platyspondylic dysplasia |
| RS2540175371 | Health Risk | Likely pathogenic | — |
| RS2540175512 | Health Risk | Likely pathogenic | — |
| RS2540177679 | Health Risk | Likely pathogenic | Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2540180667 | Health Risk | Likely pathogenic | — |
| RS2540181315 | Health Risk | Likely pathogenic | Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2540182684 | Health Risk | Likely pathogenic | — |
| RS2540182834 | Health Risk | Likely pathogenic | — |
| RS2540182840 | Health Risk | Likely pathogenic | — |
| RS2540183621 | Health Risk | Likely pathogenic | Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2540187271 | Health Risk | Likely pathogenic | Achondrogenesis type II, Achondrogenesis type II |
| RS2540187950 | Health Risk | Likely pathogenic | — |
| RS745788222 | Health Risk | Likely pathogenic | MASS syndrome, MASS syndrome |
| RS747935160 | Health Risk | Likely pathogenic | COL2A1-related disorder, COL2A1-related disorder |
| RS757504416 | Health Risk | Likely pathogenic | — |
| RS760093841 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepiphyseal dysplasia |
| RS763390467 | Health Risk | Likely pathogenic | — |
| RS776036012 | Health Risk | Likely pathogenic | — |
| RS786205477 | Health Risk | Likely pathogenic | — |
| RS794727438 | Health Risk | Likely pathogenic | — |
| RS794727596 | Health Risk | Likely pathogenic | — |
| RS868417981 | Health Risk | Likely pathogenic | Achondrogenesis type II, Achondrogenesis type II |
| RS886039542 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Type 2 collagenopathy, 8 conditions |
| RS886042741 | Health Risk | Likely pathogenic | — |
| RS886042849 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia congenita, Platyspondylic dysplasia, Torrance type |
| RS886043540 | Health Risk | Likely pathogenic | Spondyloperipheral dysplasia, Spondyloperipheral dysplasia |
| RS886043712 | Health Risk | Likely pathogenic | — |
| RS886044702 | Health Risk | Likely pathogenic | — |
| RS917659377 | Health Risk | Likely pathogenic | — |
| RS1025202963 | Health Risk | Pathogenic | Stickler syndrome type 1, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 |
| RS1045330263 | Health Risk | Pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia |
| RS1057518157 | Health Risk | Pathogenic | — |
| RS1057524114 | Health Risk | Pathogenic | Stickler syndrome type 1, COL2A1-related disorder, Stickler syndrome type 1 |
| RS1057524602 | Health Risk | Pathogenic | — |
| RS1057524696 | Health Risk | Pathogenic | Stickler syndrome type 1, Stickler syndrome type 1 |
| RS1064796332 | Health Risk | Pathogenic | — |
| RS1064796660 | Health Risk | Pathogenic | Type 2 collagenopathy, Type 2 collagenopathy |
| RS1085307608 | Health Risk | Pathogenic | Heart, malformation of, Micrognathia |
| RS1085307657 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita |
| RS1131691546 | Health Risk | Pathogenic | — |
| RS1131691822 | Health Risk | Pathogenic | Stickler syndrome type 1, COL2A1-related disorder, Stickler syndrome type 1 |
| RS1209546147 | Health Risk | Pathogenic | — |
| RS1215825701 | Health Risk | Pathogenic | See cases, See cases |