CHST14 Chromosome 15
Carbohydrate sulfotransferase 14
Upload your DNA to see your personal genotypes for variants in CHST14.
What This Gene Does
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000169105
Associated Conditions (5)
Ehlers-Danlos syndrome
musculocontractural type
Cardiovascular phenotype
CHST14-related disorder
musculocontractural type 1
Key Variants
RS1014902072
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS1035955777
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type
Health Risk
RS139229738
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS144629123
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS148053059
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS1894337954
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome
Health Risk
RS1894350607
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS200330181
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS200761477
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS397518432
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1
Health Risk
RS556002453
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
RS751335857
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1014902072 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS1035955777 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Ehlers-Danlos syndrome, musculocontractural type |
| RS139229738 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS144629123 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS148053059 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS1894337954 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1894350607 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS200330181 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS200761477 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS397518432 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1 |
| RS556002453 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS751335857 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS903042632 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS121908257 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1 |
| RS1555410784 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Cardiovascular phenotype |
| RS1595869290 | Health Risk | Likely pathogenic | — |
| RS1424445748 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1555410747 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS1555410785 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS1566969054 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1595869602 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS2543005630 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS2543005745 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS2543006253 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS2543006302 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS2543006403 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS267606729 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1 |
| RS267606730 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS267606731 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS373443856 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS397514706 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1, Ehlers-Danlos syndrome |
| RS794726956 | Health Risk | Pathogenic | — |
| RS967905996 | Health Risk | Pathogenic | — |
| RS121908258 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1 |
| RS1247205097 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, musculocontractural type 1 |
| RS1256212335 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1293915082 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1555410768 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |
| RS1595869467 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome |