COL10A1 Chromosome 6
Collagen type X alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL10A1.
What This Gene Does
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"C1q domain containing|Network forming collagens"
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000123500
Associated Conditions (6)
Metaphyseal chondrodysplasia
Schmid type
Inborn genetic diseases
COL10A1-related disorder
Nager syndrome
See cases
Key Variants
RS112875740
Conflicting classifications of pathogenicity
Health Risk
RS1247147548
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia
Health Risk
RS142108410
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145003921
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia
Health Risk
RS146980198
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL10A1-related disorder, Nager syndrome
Health Risk
RS147612968
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Inborn genetic diseases
Health Risk
RS149987585
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Inborn genetic diseases
Health Risk
RS1779066482
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia
Health Risk
RS191382529
Conflicting classifications of pathogenicity
Health Risk
RS199843000
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199868902
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200692352
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Schmid type, Inborn genetic diseases
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2114279043 | Health Risk | Likely pathogenic | — |
| RS2534083328 | Health Risk | Likely pathogenic | — |
| RS2534083355 | Health Risk | Likely pathogenic | — |
| RS2534083665 | Health Risk | Likely pathogenic | — |
| RS2534083728 | Health Risk | Likely pathogenic | — |
| RS2534084263 | Health Risk | Likely pathogenic | — |
| RS2534084287 | Health Risk | Likely pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2534085175 | Health Risk | Likely pathogenic | COL10A1-related disorder, COL10A1-related disorder |
| RS748777581 | Health Risk | Likely pathogenic | — |
| RS111033543 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033544 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033548 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033549 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033551 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033553 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033554 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033556 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS1562122372 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS1582811912 | Health Risk | Pathogenic | — |
| RS1779064401 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS1779077264 | Health Risk | Pathogenic | — |
| RS2114276588 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2114276886 | Health Risk | Pathogenic | — |
| RS2114276983 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2114277437 | Health Risk | Pathogenic | — |
| RS2114277685 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2114277790 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2114277897 | Health Risk | Pathogenic | — |
| RS2534083734 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2534083958 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2534084154 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2534084292 | Health Risk | Pathogenic | — |
| RS2534084357 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS111033552 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, Schmid type, Metaphyseal chondrodysplasia |
| RS2114278254 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2534084554 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS779802963 | Health Risk | Pathogenic/Likely pathogenic | See cases, Metaphyseal chondrodysplasia, Schmid type |