CHST3 Chromosome 10
Carbohydrate sulfotransferase 3
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What This Gene Does
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000122863
Associated Conditions (4)
Spondyloepiphyseal dysplasia with congenital joint dislocations
Inborn genetic diseases
CHST3-related disorder
Larsen syndrome
Key Variants
RS1360950889
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS144885813
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS150466838
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS369055984
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS3740128
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS376107245
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS564028722
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS748812857
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS751961615
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS759935618
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS774599785
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
RS1003539672
Likely pathogenic
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1360950889 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS144885813 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS150466838 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS369055984 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS3740128 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS376107245 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS564028722 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS748812857 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS751961615 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS759935618 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS774599785 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1003539672 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1057520111 | Health Risk | Likely pathogenic | — |
| RS1216480002 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS121908620 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1378815381 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1416637363 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1589509307 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1840047074 | Health Risk | Likely pathogenic | — |
| RS1840069879 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS200988207 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2131774841 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2494767083 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS28937593 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS865931042 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS121908616 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS121908617 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS121908618 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS121908619 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1240422084 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1316347883 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1416783446 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1564532120 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1564532377 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1589509884 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1589510055 | Health Risk | Pathogenic | Larsen syndrome, Larsen syndrome |
| RS1840050989 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2131773933 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2131774158 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2131776376 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2131776450 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2494763949 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2494771271 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS2494772065 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606732 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606733 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606734 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS747171013 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS751470049 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS756133268 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |