Gene entry
CHST3
carbohydrate sulfotransferase 3
- Chromosome
- 10
- Cytoband
- 10q22.1
- Variants (rsID)
- 47
CHST3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.1). Its official name is “carbohydrate sulfotransferase 3”. The reference table lists 47 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs115579748Benignsingle nucleotide variantSpondyloepiphyseal dysplasia with congenital joint dislocations
- rs12418Benignsingle nucleotide variantLarsen syndrome|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita
- rs145384892Benignsingle nucleotide variantSpondyloepiphyseal dysplasia with congenital joint dislocations
- rs1871450Benignsingle nucleotide variantSkeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita|Larsen syndrome
- rs4148943Benignsingle nucleotide variantSpondyloepiphyseal dysplasia congenita|Spondyloepiphyseal dysplasia with congenital joint dislocations|Skeletal dysplasia|Larsen syndrome
- rs4148944Benignsingle nucleotide variantSpondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Larsen syndrome
- rs4148946Benignsingle nucleotide variantSkeletal dysplasia|Larsen syndrome|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita
- rs4148947Benignsingle nucleotide variantLarsen syndrome|Spondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs4148949Benignsingle nucleotide variantSkeletal dysplasia|Larsen syndrome|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita
- rs4148950Benignsingle nucleotide variantLarsen syndrome|Spondyloepiphyseal dysplasia congenita|Spondyloepiphyseal dysplasia with congenital joint dislocations|Skeletal dysplasia
- rs730720Benignsingle nucleotide variantLarsen syndrome|Skeletal dysplasia|Spondyloepiphyseal dysplasia congenita|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs731027Benignsingle nucleotide variantLarsen syndrome|Spondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs75845750Benignsingle nucleotide variantSpondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Larsen syndrome|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs144287889Conflicting interpretationssingle nucleotide variantSpondyloepiphyseal dysplasia with congenital joint dislocations|Larsen syndrome|Skeletal dysplasia|Spondyloepiphyseal dysplasia congenita
- rs147804585Conflicting interpretationssingle nucleotide variantSkeletal dysplasia|Larsen syndrome|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita
- rs200249458Conflicting interpretationssingle nucleotide variantSkeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Larsen syndrome|Spondyloepiphyseal dysplasia congenita
- rs4148951Likely benignsingle nucleotide variantLarsen syndrome|Spondyloepiphyseal dysplasia congenita|Spondyloepiphyseal dysplasia with congenital joint dislocations|Skeletal dysplasia
- rs4148953Likely benignsingle nucleotide variantLarsen syndrome|Spondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs7072219Likely benignsingle nucleotide variantSkeletal dysplasia|Larsen syndrome|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita
- rs116508900Uncertain significancesingle nucleotide variantSpondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Larsen syndrome
- rs12250549Uncertain significancesingle nucleotide variantLarsen syndrome|Skeletal dysplasia|Spondyloepiphyseal dysplasia congenita|Spondyloepiphyseal dysplasia with congenital joint dislocations
- rs12267478Uncertain significancesingle nucleotide variantSkeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita|Larsen syndrome
- rs4148942Uncertain significancesingle nucleotide variantSpondyloepiphyseal dysplasia with congenital joint dislocations|Spondyloepiphyseal dysplasia congenita|Larsen syndrome|Skeletal dysplasia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
