COLGALT1 Chromosome 19
Collagen beta(1-O)galactosyltransferase 1
Upload your DNA to see your personal genotypes for variants in COLGALT1.
What This Gene Does
The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Collagen beta(1-O)galactosyltransferases
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000130309
Associated Conditions (3)
COLGALT1-related disorder
Inborn genetic diseases
Brain small vessel disease 3
Key Variants
RS118174667
Conflicting classifications of pathogenicity
COLGALT1-related disorder, COLGALT1-related disorder
Health Risk
RS139134591
Conflicting classifications of pathogenicity
Health Risk
RS142395967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202232301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS955092262
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2076207767
Likely pathogenic
Brain small vessel disease 3, Brain small vessel disease 3
Health Risk
RS1478523191
Pathogenic
Brain small vessel disease 3, Brain small vessel disease 3
Health Risk
RS1568481204
Pathogenic
Brain small vessel disease 3, Brain small vessel disease 3
Health Risk
RS1568481244
Pathogenic
Brain small vessel disease 3, Brain small vessel disease 3
Health Risk
RS181844791
Pathogenic
Brain small vessel disease 3, Brain small vessel disease 3
Health Risk
RS2076205946
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2512878284
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118174667 | Health Risk | Conflicting classifications of pathogenicity | COLGALT1-related disorder, COLGALT1-related disorder |
| RS139134591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142395967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202232301 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS955092262 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2076207767 | Health Risk | Likely pathogenic | Brain small vessel disease 3, Brain small vessel disease 3 |
| RS1478523191 | Health Risk | Pathogenic | Brain small vessel disease 3, Brain small vessel disease 3 |
| RS1568481204 | Health Risk | Pathogenic | Brain small vessel disease 3, Brain small vessel disease 3 |
| RS1568481244 | Health Risk | Pathogenic | Brain small vessel disease 3, Brain small vessel disease 3 |
| RS181844791 | Health Risk | Pathogenic | Brain small vessel disease 3, Brain small vessel disease 3 |
| RS2076205946 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512878284 | Health Risk | Pathogenic | — |