CHST6 Chromosome 16
Carbohydrate sulfotransferase 6
Upload your DNA to see your personal genotypes for variants in CHST6.
What This Gene Does
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000183196
Associated Conditions (5)
Macular corneal dystrophy
Inborn genetic diseases
CHST6-related disorder
See cases
type II
Key Variants
RS1044185449
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS121917824
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS140699573
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS1482996862
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS201743866
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Inborn genetic diseases, Macular corneal dystrophy
Health Risk
RS2080109094
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS373160858
Conflicting classifications of pathogenicity
Macular corneal dystrophy, CHST6-related disorder, Macular corneal dystrophy
Health Risk
RS576445739
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS758657734
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS762744897
Conflicting classifications of pathogenicity
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
RS1233675347
Likely pathogenic
See cases, See cases
Health Risk
RS1471624682
Likely pathogenic
Macular corneal dystrophy, Macular corneal dystrophy
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1044185449 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS121917824 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS140699573 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS1482996862 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS201743866 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Inborn genetic diseases, Macular corneal dystrophy |
| RS2080109094 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS373160858 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, CHST6-related disorder, Macular corneal dystrophy |
| RS576445739 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS758657734 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS762744897 | Health Risk | Conflicting classifications of pathogenicity | Macular corneal dystrophy, Macular corneal dystrophy |
| RS1233675347 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1471624682 | Health Risk | Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS753928736 | Health Risk | Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS999246452 | Health Risk | Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS121917822 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS1412910699 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS202175444 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS2080106267 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS2507252174 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS2507252387 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS2507253239 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS28937877 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS28937878 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS28937879 | Health Risk | Pathogenic | Macular corneal dystrophy, type II, CHST6-related disorder |
| RS72547544 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS746184019 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS757912368 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS771397083 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS886052321 | Health Risk | Pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS2151665554 | Health Risk | Pathogenic/Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS755563003 | Health Risk | Pathogenic/Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |
| RS756036451 | Health Risk | Pathogenic/Likely pathogenic | Macular corneal dystrophy, Macular corneal dystrophy |